Variant report

Variant	rs2220287
Chromosome Location	chr11:33182392-33182393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr11:33181657-33183558	A549	lung:	n/a	chr11:33181939-33181948 chr11:33183091-33183101
2	POLR2A	chr11:33182361-33183693	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr11:33182133-33183526	Hela-S3	cervix:	n/a	n/a
4	GABPA	chr11:33182271-33183545	A549	lung:	n/a	chr11:33183091-33183100
5	TEAD4	chr11:33182377-33183707	K562	blood:	n/a	n/a
6	MXI1	chr11:33181654-33183447	Hela-S3	cervix:	n/a	chr11:33181937-33181952 chr11:33181939-33181954
7	MYC	chr11:33182153-33183392	MCF10A-Er-Src	breast:	n/a	chr11:33183091-33183101
8	POLR2A	chr11:33182126-33184013	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr11:33181714-33183420	K562	blood:	n/a	chr11:33181937-33181952 chr11:33181939-33181954
10	POLR2A	chr11:33182216-33183611	HepG2	liver:	n/a	n/a
11	TBL1XR1	chr11:33181629-33182485	K562	blood:	n/a	n/a
12	TEAD4	chr11:33181545-33183619	K562	blood:	n/a	n/a
13	MAX	chr11:33182257-33183639	A549	lung:	n/a	chr11:33183091-33183101
14	GABPA	chr11:33182305-33183757	MCF-7	breast:	n/a	chr11:33183091-33183100
15	MYC	chr11:33181884-33183500	K562	blood:	n/a	chr11:33181939-33181948 chr11:33183091-33183101
16	POLR2A	chr11:33182328-33183594	SK-N-MC	brain:	n/a	n/a
17	REST	chr11:33182376-33183471	A549	lung:	n/a	chr11:33183088-33183101
18	POLR2A	chr11:33182383-33183451	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr11:33182380-33182530	NHDF-neo	bronchial:	n/a	n/a
20	POLR2A	chr11:33182330-33183610	GM18505	blood:	n/a	n/a
21	POLR2A	chr11:33182330-33183600	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr11:33182354-33183493	Hela-S3	cervix:	n/a	n/a
23	ARID3A	chr11:33182051-33183545	K562	blood:	n/a	n/a
24	CHD1	chr11:33181160-33183557	IMR90	lung:	n/a	n/a
25	MAX	chr11:33182286-33183504	GM12878	blood:	n/a	chr11:33183091-33183101
26	CHD1	chr11:33181330-33183697	H1-hESC	embryonic stem cell:	n/a	n/a
27	EP300	chr11:33181479-33183405	GM12878	blood:	n/a	chr11:33182672-33182686 chr11:33183079-33183086 chr11:33182127-33182141
28	GTF2F1	chr11:33181796-33183531	Hela-S3	cervix:	n/a	n/a
29	MXI1	chr11:33182352-33183512	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:33182179-33183564	HL-60	blood:	n/a	n/a
31	SIN3A	chr11:33181195-33183442	H1-hESC	embryonic stem cell:	n/a	n/a
32	HCFC1	chr11:33181625-33183917	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:33182298-33183539	GM12892	blood:	n/a	n/a
34	MXI1	chr11:33180970-33183819	SK-N-SH	brain:	n/a	chr11:33181937-33181952 chr11:33181939-33181954
35	PML	chr11:33182262-33183650	GM12878	blood:	n/a	n/a
36	MYC	chr11:33181837-33183565	K562	blood:	n/a	chr11:33181939-33181948 chr11:33183091-33183101
37	REST	chr11:33181501-33183640	H1-neurons	neurons:	n/a	chr11:33183088-33183101
38	E2F4	chr11:33181991-33183795	MCF10A-Er-Src	breast:	n/a	chr11:33182464-33182472 chr11:33182464-33182471 chr11:33182464-33182472 chr11:33183174-33183183 chr11:33183172-33183181 chr11:33182463-33182474 chr11:33182463-33182473 chr11:33183230-33183241
39	POLR2A	chr11:33181689-33183346	IMR90	lung:	n/a	n/a
40	IKZF1	chr11:33182309-33182656	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:33181243-33183426	MCF10A-Er-Src	breast:	n/a	n/a
42	MAX	chr11:33182312-33183655	HCT-116	colon:	n/a	chr11:33183091-33183101
43	JUN	chr11:33181177-33183689	K562	blood:	n/a	chr11:33183169-33183182 chr11:33182360-33182369 chr11:33183498-33183509 chr11:33183173-33183182
44	POLR2A	chr11:33181385-33183421	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:33182377-33183549	PANC-1	pancreas:	n/a	n/a
46	TBP	chr11:33181874-33183581	GM12878	blood:	n/a	n/a
47	MBD4	chr11:33182368-33183466	HepG2	liver:	n/a	n/a
48	MAX	chr11:33182358-33183593	HepG2	liver:	n/a	chr11:33183091-33183101
49	IRF1	chr11:33181795-33183666	K562	blood:	n/a	chr11:33182287-33182304 chr11:33182318-33182331 chr11:33182288-33182299 chr11:33182316-33182330 chr11:33182286-33182306 chr11:33183090-33183104 chr11:33182320-33182331 chr11:33182288-33182302 chr11:33181914-33181925 chr11:33182287-33182299 chr11:33182290-33182304 chr11:33183409-33183421 chr11:33182924-33182941 chr11:33182288-33182298 chr11:33182318-33182331 chr11:33182312-33182332 chr11:33182314-33182328 chr11:33181913-33181925 chr11:33182317-33182331
50	POLR2A	chr11:33181035-33183493	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33107195..33109428-chr11:33181962..33183514,2	K562	blood:
2	chr11:33180418..33183694-chr11:33278346..33281012,5	MCF-7	breast:
3	chr11:33181969..33182826-chr17:48745137..48745930,2	Hela-S3	cervix:
4	chr11:33180427..33182793-chr11:33208448..33210251,2	K562	blood:
5	chr11:33180160..33183951-chr11:33277482..33283147,16	K562	blood:
6	chr11:797886..798445-chr11:33182179..33183133,2	HCT-116	colon:
7	chr11:32911083..32916400-chr11:33180278..33184105,5	K562	blood:
8	chr11:33182020..33182621-chr12:6977125..6977668,2	Hela-S3	cervix:
9	chr11:33181657..33184341-chr11:33279051..33282180,3	MCF-7	breast:
10	chr11:33180160..33185398-chr11:33277230..33283289,14	K562	blood:
11	chr11:33182274..33183032-chr3:52007563..52008447,2	Hela-S3	cervix:
12	chr11:33181954..33184910-chr11:33755905..33758961,3	K562	blood:
13	chr11:33182326..33183217-chr11:33278148..33279535,3	Hela-S3	cervix:

Variant related genes	Relation type
CSTF3-AS1	TF binding region
ENSG00000272762	Chromatin interaction
ENSG00000177542	Chromatin interaction
ENSG00000060749	Chromatin interaction
ENSG00000111669	Chromatin interaction
ENSG00000248487	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000108846	Chromatin interaction
ENSG00000114779	Chromatin interaction
ENSG00000176102	Chromatin interaction
ENSG00000110422	Chromatin interaction

Extended variants
information (count: 176 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1028564	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10767987	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10767988	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10767989	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10767990	0.98[ASN][1000 genomes]
rs10767992	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10767994	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10767995	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10767998	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10767999	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10768001	0.89[ASN][1000 genomes]
rs10836021	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836022	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836025	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10836026	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10836027	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10836028	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10836029	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10836034	0.90[ASN][1000 genomes]
rs10836035	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836036	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836038	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10836039	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836041	0.89[ASN][1000 genomes]
rs10836045	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10836051	0.83[AMR][1000 genomes]
rs11032175	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11032190	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032191	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032193	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032200	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032201	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11600589	0.97[ASN][1000 genomes]
rs11602835	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11605077	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11823640	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11825687	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12360582	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12798476	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12801128	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12801140	0.89[ASN][1000 genomes]
rs12801185	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12805232	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1386183	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407367	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1471851	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1967001	0.89[ASN][1000 genomes]
rs1967061	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1979543	0.97[ASN][1000 genomes]
rs1994367	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1994368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1994369	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2065083	0.97[ASN][1000 genomes]
rs2087087	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2199917	0.88[ASN][1000 genomes]
rs2199918	0.80[ASN][1000 genomes]
rs2420021	0.97[ASN][1000 genomes]
rs2474868	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2474869	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2474870	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2475382	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs267437	0.89[ASN][1000 genomes]
rs267439	0.89[ASN][1000 genomes]
rs267440	0.89[ASN][1000 genomes]
rs3117541	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3117542	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3117652	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3117653	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3117654	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34143165	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs372754	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs373499	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3736213	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs373705	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs375376	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs380540	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3847592	0.81[AMR][1000 genomes]
rs385132	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs394634	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs396518	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs397935	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs409516	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs414940	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs416097	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs422493	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs425468	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs429439	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs441663	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs444575	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs446679	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs449444	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs450846	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4755355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4755361	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756073	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4756074	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4756082	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756083	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4756087	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4756090	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4756102	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4756104	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756121	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756136	0.96[ASN][1000 genomes]
rs4756141	0.89[ASN][1000 genomes]
rs4756143	0.87[ASN][1000 genomes]
rs4756144	0.89[ASN][1000 genomes]
rs5018639	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs603088	0.89[ASN][1000 genomes]
rs638759	0.89[ASN][1000 genomes]
rs6484644	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6484645	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6484647	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6484648	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67433468	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7104129	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7114770	0.97[ASN][1000 genomes]
rs7118056	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7125136	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7131287	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7394784	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7394794	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7395436	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7397000	0.81[ASN][1000 genomes]
rs7482452	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7928487	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7929507	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7932999	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7936132	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7937448	0.88[ASN][1000 genomes]
rs7938357	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7946185	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7946222	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7950763	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951995	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs927177	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs927178	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs927179	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs932655	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9667141	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1041149	chr11:32981164-33496670	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1053823	chr11:32981164-33533356	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv897194	chr11:32993887-33471804	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv1040572	chr11:33008191-33518964	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv540989	chr11:33008191-33518964	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1042860	chr11:33008191-33562490	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv540990	chr11:33008191-33562490	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1051521	chr11:33008435-33239765	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv540991	chr11:33008435-33239765	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv897195	chr11:33012493-33559186	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
14	nsv1053344	chr11:33028973-33499346	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv1046243	chr11:33043155-33439216	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
16	nsv540992	chr11:33043155-33439216	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
17	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
18	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
19	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
20	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
21	nsv467786	chr11:33065394-33476703	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
22	nsv553994	chr11:33065394-33476703	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
23	nsv521130	chr11:33068389-33602913	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
24	nsv1049756	chr11:33075082-33496670	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
25	nsv1053959	chr11:33075082-33565833	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
26	nsv540994	chr11:33075082-33565833	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
27	esv2761660	chr11:33114936-33486928	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
28	nsv1035618	chr11:33117833-33448457	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
29	nsv540995	chr11:33117833-33448457	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
30	nsv1047667	chr11:33119875-33301210	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
31	nsv897200	chr11:33132864-33383085	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
32	nsv553995	chr11:33132864-33476703	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
33	nsv1038920	chr11:33142058-33482973	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
34	nsv897201	chr11:33154678-33370884	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
35	nsv1036238	chr11:33162914-33460303	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
36	nsv540996	chr11:33162914-33460303	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33178000-33184800	Active TSS	GM12878-XiMat	blood
2	chr11:33180000-33183600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:33180000-33183600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:33180400-33183000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:33180400-33183200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:33180600-33183800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:33180600-33184000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:33180800-33183000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:33180800-33183200	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr11:33180800-33183400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:33180800-33183400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:33180800-33183600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:33180800-33183600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:33180800-33183800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:33180800-33183800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:33180800-33184000	Active TSS	A549	lung
17	chr11:33181000-33183200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr11:33181000-33183200	Active TSS	K562	blood
19	chr11:33181000-33183600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:33181200-33182400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr11:33181200-33182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:33181200-33183200	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:33181200-33183200	Active TSS	NH-A	brain
24	chr11:33181200-33183400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:33181200-33183400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:33181200-33183400	Active TSS	Fetal Kidney	kidney
27	chr11:33181200-33183400	Active TSS	Lung	lung
28	chr11:33181200-33183600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:33181200-33183600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:33181200-33183600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:33181200-33183800	Active TSS	Brain Angular Gyrus	brain
32	chr11:33181400-33182600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:33181400-33182600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr11:33181400-33182600	Weak transcription	Spleen	Spleen
35	chr11:33181400-33183000	Active TSS	Gastric	stomach
36	chr11:33181400-33183200	Active TSS	Liver	Liver
37	chr11:33181400-33183200	Active TSS	Fetal Intestine Large	intestine
38	chr11:33181400-33183200	Active TSS	Fetal Intestine Small	intestine
39	chr11:33181400-33183200	Active TSS	Fetal Muscle Leg	muscle
40	chr11:33181400-33183200	Active TSS	Hela-S3	cervix
41	chr11:33181400-33183200	Active TSS	HMEC	breast
42	chr11:33181400-33183200	Active TSS	NHDF-Ad	bronchial
43	chr11:33181400-33183400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:33181400-33183400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:33181400-33183400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:33181400-33183400	Active TSS	Brain Germinal Matrix	brain
47	chr11:33181400-33183400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:33181400-33183400	Active TSS	Fetal Brain Female	brain
49	chr11:33181400-33183400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr11:33181400-33183400	Active TSS	Pancreas	Pancrea

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