Variant report

Variant	rs11576293
Chromosome Location	chr1:150335536-150335537
allele	A/G
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	chr1:150335418-150335596	MCF-7	breast:	n/a	n/a
2	MAX	chr1:150335183-150338117	A549	lung:	n/a	n/a
3	POLR2A	chr1:150335236-150335590	MCF-7	breast:	n/a	n/a
4	TAF1	chr1:150335224-150335793	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:150335376-150337688	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr1:150335524-150335809	H1-hESC	embryonic stem cell:	n/a	n/a
7	HA-E2F1	chr1:150335229-150337611	MCF-7	breast:	n/a	chr1:150336443-150336452 chr1:150336610-150336619 chr1:150336154-150336163 chr1:150336802-150336817
8	MTA3	chr1:150335288-150336350	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:150335531-150335700	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr1:150335287-150338346	GM12878	blood:	n/a	n/a
11	BCL3	chr1:150335436-150337005	A549	lung:	n/a	chr1:150336024-150336033 chr1:150336349-150336358
12	MXI1	chr1:150335473-150338000	IMR90	lung:	n/a	n/a
13	POLR2A	chr1:150334972-150338412	H1-hESC	embryonic stem cell:	n/a	n/a
14	GATA3	chr1:150335489-150337720	A549	lung:	n/a	chr1:150336543-150336552 chr1:150336082-150336099 chr1:150336044-150336054 chr1:150336081-150336090 chr1:150336038-150336048
15	PML	chr1:150335368-150336985	K562	blood:	n/a	n/a
16	POLR2A	chr1:150335296-150338046	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr1:150335485-150338133	HL-60	blood:	n/a	n/a
18	POLR2A	chr1:150335501-150337671	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:150335498-150337966	PBDE	blood:	n/a	n/a
20	TAF1	chr1:150335076-150337764	MCF-7	breast:	n/a	n/a
21	POLR2A	chr1:150335265-150338197	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:150335518-150337664	K562	blood:	n/a	n/a
23	GABPA	chr1:150335117-150337596	MCF-7	breast:	n/a	chr1:150336439-150336453 chr1:150336609-150336620 chr1:150336153-150336162 chr1:150336153-150336167 chr1:150336442-150336453 chr1:150336153-150336164 chr1:150336611-150336620 chr1:150336155-150336164 chr1:150336442-150336456 chr1:150336609-150336623 chr1:150336442-150336451 chr1:150336150-150336164
24	GATA2	chr1:150335525-150337001	SH-SY5Y	brain:	n/a	chr1:150336543-150336552 chr1:150336082-150336099 chr1:150336044-150336054 chr1:150336081-150336090 chr1:150336038-150336048
25	CEBPB	chr1:150335443-150336905	A549	lung:	n/a	chr1:150335926-150335937 chr1:150335927-150335938 chr1:150335926-150335939 chr1:150335926-150335939
26	POLR2A	chr1:150335342-150337581	HUVEC	blood vessel:	n/a	n/a
27	HEY1	chr1:150335516-150337678	K562	blood:	n/a	n/a
28	RCOR1	chr1:150335536-150336538	K562	blood:	n/a	n/a
29	NFIC	chr1:150335397-150336618	GM12878	blood:	n/a	n/a
30	CREB1	chr1:150335341-150337910	GM12878	blood:	n/a	n/a
31	RELA	chr1:150335474-150338110	GM19099	blood:	n/a	chr1:150337464-150337473 chr1:150337945-150337954 chr1:150337464-150337473 chr1:150337945-150337954
32	ELF1	chr1:150334994-150337694	MCF-7	breast:	n/a	chr1:150335458-150335471 chr1:150336046-150336057 chr1:150336028-150336039
33	PML	chr1:150335091-150338081	GM12878	blood:	n/a	n/a
34	STAT5A	chr1:150335139-150338054	GM12878	blood:	n/a	chr1:150336339-150336351 chr1:150336803-150336815 chr1:150337416-150337428 chr1:150336587-150336599
35	CEBPB	chr1:150335465-150338166	GM12878	blood:	n/a	chr1:150335926-150335937 chr1:150335927-150335938 chr1:150335926-150335939 chr1:150335926-150335939
36	POLR2A	chr1:150335458-150338236	Raji	blood:	n/a	n/a
37	PML	chr1:150335290-150337933	MCF-7	breast:	n/a	n/a
38	BCL3	chr1:150335069-150337026	A549	lung:	n/a	chr1:150336024-150336033 chr1:150336349-150336358
39	TBL1XR1	chr1:150335380-150336883	K562	blood:	n/a	n/a
40	POLR2A	chr1:150335242-150335691	Hela-S3	cervix:	n/a	n/a
41	MYC	chr1:150335471-150335553	MCF-7	breast:	n/a	n/a
42	POLR2A	chr1:150335131-150335592	ECC-1	luminal epithelium:	n/a	n/a
43	MYC	chr1:150335472-150337392	K562	blood:	n/a	n/a
44	STAT5A	chr1:150335440-150336609	K562	blood:	n/a	chr1:150336339-150336351 chr1:150336587-150336599
45	EP300	chr1:150335508-150336865	K562	blood:	n/a	chr1:150336040-150336049 chr1:150335924-150335938 chr1:150336024-150336038
46	SIX5	chr1:150335380-150338058	A549	lung:	n/a	chr1:150337462-150337471
47	MAX	chr1:150335282-150337775	A549	lung:	n/a	n/a
48	MTA3	chr1:150335198-150338219	GM12878	blood:	n/a	n/a
49	POLR2A	chr1:150335458-150335562	Gliobla	brain:	n/a	n/a
50	POLR2A	chr1:150335134-150337854	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150335507-150335557	NHDF-neo	bronchial:	n/a
2	chr1:150335507-150335557	PANC-1	pancreas:	n/a
3	chr1:150335507-150335557	Hela-S3	cervix:	n/a
4	chr1:150335507-150335557	GM12892	blood:	n/a
5	chr1:150335507-150335557	MCF-7	breast:	n/a
6	chr1:150335507-150335557	HCM	heart:	n/a
7	chr1:150335507-150335557	SK-N-SH_RA	brain:	n/a
8	chr1:150335507-150335557	Jurkat	blood:	n/a
9	chr1:150335507-150335557	T-47D	breast:	n/a
10	chr1:150335507-150335557	HPAEpiC	pulmonary alveolar:	n/a
11	chr1:150335507-150335557	PFSK-1	brain:	n/a
12	chr1:150335507-150335557	HRPEpiC	eye:	n/a
13	chr1:150335507-150335557	AoSMC	blood vessel:	n/a
14	chr1:150335507-150335557	SKMC	muscle:	n/a
15	chr1:150335507-150335557	HMEC	breast:	n/a
16	chr1:150335507-150335557	HRCEpiC	kidney:	n/a
17	chr1:150335507-150335557	AG09309	skin:	n/a
18	chr1:150335507-150335557	AG09319	gingival:	n/a
19	chr1:150335507-150335557	HCPEpiC	choroid plexus:	n/a
20	chr1:150335507-150335557	AG04449	skin:	fetal
21	chr1:150335507-150335557	ovcar-3	ovarian:	n/a
22	chr1:150335507-150335557	ECC-1	luminal epithelium:	n/a
23	chr1:150335507-150335557	SAEC	small airway:	n/a
24	chr1:150335507-150335557	NHBE	bronchial:	n/a
25	chr1:150335507-150335557	RPTEC	kidney:	n/a
26	chr1:150335507-150335557	GM06990	blood:	n/a
27	chr1:150335507-150335557	HEK293	kidney:	embryo
28	chr1:150335507-150335557	HCT-116	colon:	n/a
29	chr1:150335507-150335557	SK-N-SH	brain:	n/a
30	chr1:150335507-150335557	HIPEpiC	eye:	n/a
31	chr1:150335507-150335557	MCF10A-Er-Src	breast:	n/a
32	chr1:150335507-150335557	GM12891	blood:	n/a
33	chr1:150335507-150335557	Hepatocyte	liver:	n/a
34	chr1:150335507-150335557	ProgFib	skin:	n/a
35	chr1:150335507-150335557	K562	blood:	n/a
36	chr1:150335507-150335557	HepG2	liver:	n/a
37	chr1:150335507-150335557	IMR90	lung:	fetal
38	chr1:150335507-150335557	GM12878	blood:	n/a
39	chr1:150335507-150335557	LNCaP	prostate:	n/a
40	chr1:150335507-150335557	NH-A	brain:	n/a
41	chr1:150335507-150335557	AG10803	skin:	n/a
42	chr1:150335507-150335557	HAEpiC	amniotic membrane:	n/a
43	chr1:150335507-150335557	A549	lung:	n/a
44	chr1:150335507-150335557	SK-N-MC	brain:	n/a
45	chr1:150335507-150335557	H1-hESC	embryonic stem cell:	embryo
46	chr1:150335507-150335557	BE2_C	brain:	n/a
47	chr1:150335507-150335557	GM19239	blood:	n/a
48	chr1:150335507-150335557	NB4	blood:	n/a
49	chr1:150335507-150335557	HCF	heart:	n/a
50	chr1:150335507-150335557	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150309217..150316448-chr1:150334640..150338012,6	MCF-7	breast:
2	chr1:150292363..150295488-chr1:150335350..150339295,4	K562	blood:
3	chr1:150252847..150256677-chr1:150333609..150339009,8	MCF-7	breast:
4	chr1:150333992..150336700-chr17:56707364..56709269,2	MCF-7	breast:
5	chr1:150206250..150210524-chr1:150335148..150338813,9	MCF-7	breast:
6	chr1:150334615..150337675-chr1:150520446..150522631,3	K562	blood:
7	chr1:150252708..150255493-chr1:150334761..150336728,2	K562	blood:
8	chr1:150205053..150211036-chr1:150333116..150338498,15	K562	blood:
9	chr1:150291213..150297860-chr1:150334210..150339087,16	MCF-7	breast:
10	chr1:150334215..150336170-chr1:150458883..150461226,2	K562	blood:
11	chr1:150265074..150268122-chr1:150334427..150338986,4	K562	blood:
12	chr1:150240799..150242755-chr1:150334348..150335863,2	MCF-7	breast:
13	chr1:150334566..150337465-chr1:150678330..150680323,3	K562	blood:
14	chr1:150263378..150268409-chr1:150334980..150339088,9	MCF-7	breast:
15	chr1:150206810..150209611-chr1:150334795..150337634,4	MCF-7	breast:
16	chr1:149857620..149859875-chr1:150334860..150337178,2	K562	blood:
17	chr1:150318464..150321936-chr1:150334221..150338705,5	MCF-7	breast:
18	chr1:150203436..150211066-chr1:150333611..150339492,20	K562	blood:
19	chr1:150335444..150338410-chr1:150897207..150899165,2	MCF-7	breast:
20	chr1:150335458..150336308-chr6:27860075..27860942,2	Hela-S3	cervix:
21	chr1:149856073..149860566-chr1:150334860..150339370,4	K562	blood:
22	chr1:150334947..150337371-chr1:150979446..150982037,2	K562	blood:
23	chr1:150335216..150336742-chr1:150529512..150532436,2	MCF-7	breast:
24	chr1:150334379..150337370-chr6:30710721..30713568,2	MCF-7	breast:
25	chr1:150315314..150317184-chr1:150334891..150337567,3	MCF-7	breast:
26	chr1:150291489..150302169-chr1:150333998..150340807,28	MCF-7	breast:
27	chr1:150319818..150321920-chr1:150333401..150335542,2	MCF-7	breast:
28	chr1:150292375..150296656-chr1:150333833..150339442,8	K562	blood:

Variant related genes	Relation type
RPRD2	TF binding region
RPRD2	CpG island
ENSG00000143401	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000237781	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000143452	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000117362	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs1105209	1.00[ASN][1000 genomes]
rs11204665	1.00[AFR][1000 genomes]
rs11205331	1.00[ASN][1000 genomes]
rs11205333	1.00[ASN][1000 genomes]
rs11205360	0.87[EUR][1000 genomes]
rs11205361	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205362	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205367	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11205374	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205377	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205386	1.00[ASN][1000 genomes]
rs11548267	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576997	1.00[ASN][1000 genomes]
rs11577751	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578585	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579087	0.80[EUR][1000 genomes]
rs11579341	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580234	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580307	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580764	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582835	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584070	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584606	1.00[ASN][1000 genomes]
rs11584761	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586880	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587606	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587682	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587837	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587963	1.00[ASN][1000 genomes]
rs11588221	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588837	1.00[ASN][1000 genomes]
rs11589801	1.00[ASN][1000 genomes]
rs11589922	1.00[ASN][1000 genomes]
rs11591200	1.00[ASN][1000 genomes]
rs12086155	1.00[ASN][1000 genomes]
rs12119250	1.00[ASN][1000 genomes]
rs12119320	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120428	1.00[AFR][1000 genomes]
rs12120683	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120867	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123044	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124898	1.00[ASN][1000 genomes]
rs12126312	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128385	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131376	1.00[ASN][1000 genomes]
rs12132918	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12134634	1.00[ASN][1000 genomes]
rs12134682	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138231	1.00[ASN][1000 genomes]
rs12138453	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138787	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139286	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139770	1.00[ASN][1000 genomes]
rs12142178	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142331	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142874	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144315	0.89[EUR][1000 genomes]
rs12144958	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145630	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382573	1.00[ASN][1000 genomes]
rs1545762	1.00[ASN][1000 genomes]
rs16835254	1.00[ASN][1000 genomes]
rs16835780	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1824849	1.00[ASN][1000 genomes]
rs1824850	1.00[ASN][1000 genomes]
rs1975957	1.00[ASN][1000 genomes]
rs2133128	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2318763	1.00[ASN][1000 genomes]
rs28560019	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118119	1.00[ASN][1000 genomes]
rs3208509	1.00[ASN][1000 genomes]
rs34355066	1.00[ASN][1000 genomes]
rs34645101	1.00[ASN][1000 genomes]
rs34755378	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34848955	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41264469	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41273537	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs41300865	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41317523	1.00[ASN][1000 genomes]
rs4265470	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926408	1.00[ASN][1000 genomes]
rs4926411	1.00[ASN][1000 genomes]
rs4926412	1.00[ASN][1000 genomes]
rs55802315	1.00[ASN][1000 genomes]
rs55909733	1.00[ASN][1000 genomes]
rs55963510	1.00[ASN][1000 genomes]
rs55973252	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133109	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56305459	1.00[ASN][1000 genomes]
rs56349882	1.00[ASN][1000 genomes]
rs56369603	1.00[ASN][1000 genomes]
rs56892994	1.00[ASN][1000 genomes]
rs58395667	1.00[ASN][1000 genomes]
rs58426216	1.00[ASN][1000 genomes]
rs59607464	1.00[ASN][1000 genomes]
rs6657062	1.00[ASN][1000 genomes]
rs66649150	1.00[ASN][1000 genomes]
rs67880399	1.00[ASN][1000 genomes]
rs72694942	1.00[ASN][1000 genomes]
rs72694944	1.00[ASN][1000 genomes]
rs72694945	1.00[ASN][1000 genomes]
rs72694946	1.00[ASN][1000 genomes]
rs72694950	1.00[ASN][1000 genomes]
rs72694951	1.00[ASN][1000 genomes]
rs72694953	1.00[ASN][1000 genomes]
rs72694956	1.00[ASN][1000 genomes]
rs72694957	1.00[ASN][1000 genomes]
rs72694959	1.00[ASN][1000 genomes]
rs72694960	1.00[ASN][1000 genomes]
rs72694961	1.00[ASN][1000 genomes]
rs72694962	1.00[ASN][1000 genomes]
rs72694964	1.00[ASN][1000 genomes]
rs72694965	1.00[ASN][1000 genomes]
rs72694969	1.00[ASN][1000 genomes]
rs72694974	1.00[ASN][1000 genomes]
rs72694990	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694993	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696807	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696808	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696824	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696828	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696841	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696848	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696852	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696855	1.00[AFR][1000 genomes]
rs72696859	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696873	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696880	1.00[AFR][1000 genomes]
rs72696901	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698822	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698842	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698892	1.00[AFR][1000 genomes]
rs72700804	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72700810	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72700813	1.00[AFR][1000 genomes]
rs72700822	1.00[ASN][1000 genomes]
rs7364905	1.00[ASN][1000 genomes]
rs7521768	1.00[ASN][1000 genomes]
rs7521783	1.00[ASN][1000 genomes]
rs7550234	1.00[ASN][1000 genomes]
rs942453	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 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	chr1:150305600-150336200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:150308200-150335600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:150319200-150335600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:150320200-150336200	Weak transcription	Gastric	stomach
5	chr1:150325600-150335600	Weak transcription	Small Intestine	intestine
6	chr1:150326200-150335600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:150326200-150335600	Weak transcription	Aorta	Aorta
8	chr1:150326200-150336000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:150326600-150335600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:150326600-150335600	Weak transcription	Primary B cells from cord blood	blood
11	chr1:150326600-150335600	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:150327000-150336000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:150327200-150335600	Weak transcription	Spleen	Spleen
14	chr1:150327600-150335600	Weak transcription	Lung	lung
15	chr1:150327600-150335600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:150328000-150335600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:150328000-150335600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:150328000-150335600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:150328000-150335600	Weak transcription	Left Ventricle	heart
20	chr1:150328000-150335600	Weak transcription	Ovary	ovary
21	chr1:150328000-150336000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:150328200-150335600	Weak transcription	Right Atrium	heart
23	chr1:150328400-150335600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:150328400-150335600	Weak transcription	Liver	Liver
25	chr1:150328600-150335600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:150328600-150335600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:150328600-150335600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:150329600-150335600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:150329800-150335600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:150330400-150335800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:150331800-150335600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:150334800-150335800	Flanking Active TSS	K562	blood
33	chr1:150334800-150339800	Active TSS	Thymus	Thymus
34	chr1:150335000-150335600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:150335000-150335600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:150335000-150335600	Enhancers	Fetal Muscle Leg	muscle
37	chr1:150335000-150336400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:150335200-150335600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr1:150335200-150335600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:150335200-150335600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:150335200-150335600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:150335200-150335600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:150335200-150335600	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:150335200-150335600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:150335200-150335600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:150335200-150335600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:150335200-150335600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:150335200-150335600	Enhancers	Fetal Kidney	kidney
49	chr1:150335200-150335600	Enhancers	Fetal Stomach	stomach
50	chr1:150335200-150335600	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links