Variant report

Variant	rs1864922
Chromosome Location	chr5:127420700-127420701
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	RCOR1	chr5:127418195-127420881	K562	blood:	n/a	n/a
2	POLR2A	chr5:127418288-127420880	GM15510	blood:	n/a	n/a
3	MAX	chr5:127420026-127420898	GM12878	blood:	n/a	n/a
4	RUNX3	chr5:127420310-127420834	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:127420426-127420934	GM12891	blood:	n/a	n/a
6	MAX	chr5:127419957-127420902	K562	blood:	n/a	n/a
7	WRNIP1	chr5:127420373-127420812	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr5:127420648-127420792	GM12878	blood:	n/a	n/a
9	EGR1	chr5:127420475-127420845	K562	blood:	n/a	chr5:127420677-127420686 chr5:127420677-127420687 chr5:127420677-127420687 chr5:127420675-127420689 chr5:127420677-127420688 chr5:127420676-127420689 chr5:127420673-127420687 chr5:127420676-127420689
10	MTA3	chr5:127420171-127421018	GM12878	blood:	n/a	n/a
11	USF2	chr5:127420584-127420785	GM12878	blood:	n/a	n/a
12	MAFK	chr5:127420550-127420750	K562	blood:	n/a	n/a
13	POLR2A	chr5:127417505-127420781	GM12892	blood:	n/a	n/a
14	SIN3AK20	chr5:127420573-127420799	PFSK-1	brain:	n/a	n/a
15	CHD1	chr5:127420524-127420907	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr5:127420593-127420928	K562	blood:	n/a	n/a
17	UBTF	chr5:127418289-127420869	K562	blood:	n/a	n/a
18	SMC3	chr5:127420155-127420820	Hela-S3	cervix:	n/a	n/a
19	STAT5A	chr5:127420235-127420836	GM12878	blood:	n/a	n/a
20	RUNX3	chr5:127420208-127420893	GM12878	blood:	n/a	n/a
21	MAX	chr5:127419969-127420938	MCF-7	breast:	n/a	n/a
22	CTCF	chr5:127418239-127421057	SK-N-SH	brain:	n/a	chr5:127419516-127419529 chr5:127420435-127420444
23	POLR2A	chr5:127420236-127420846	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:127417660-127420852	GM18951	blood:	n/a	n/a
25	NFIC	chr5:127420390-127420859	GM12878	blood:	n/a	n/a
26	ZNF143	chr5:127420441-127420959	K562	blood:	n/a	n/a
27	RAD21	chr5:127418369-127420744	IMR90	lung:	n/a	chr5:127419474-127419488
28	MXI1	chr5:127417997-127421109	IMR90	lung:	n/a	chr5:127418982-127418997
29	POLR2A	chr5:127420553-127420792	GM12878	blood:	n/a	n/a
30	REST	chr5:127418122-127421075	H1-neurons	neurons:	n/a	chr5:127419199-127419212
31	MAX	chr5:127418117-127420807	A549	lung:	n/a	chr5:127419542-127419553
32	RAD21	chr5:127420274-127420802	SK-N-SH_RA	brain:	n/a	n/a
33	MXI1	chr5:127416807-127421055	SK-N-SH	brain:	n/a	chr5:127418982-127418997
34	MAZ	chr5:127420245-127420882	GM12878	blood:	n/a	n/a
35	BCLAF1	chr5:127419955-127420786	GM12878	blood:	n/a	n/a
36	POLR2A	chr5:127418475-127420705	Hela-S3	cervix:	n/a	n/a
37	HCFC1	chr5:127420587-127420778	K562	blood:	n/a	n/a
38	GATA3	chr5:127418262-127420818	A549	lung:	n/a	chr5:127420594-127420602
39	CHD2	chr5:127420471-127420825	K562	blood:	n/a	n/a
40	POLR2A	chr5:127420320-127421108	MCF10A-Er-Src	breast:	n/a	n/a
41	TEAD4	chr5:127420311-127420716	H1-hESC	embryonic stem cell:	n/a	n/a
42	RCOR1	chr5:127420637-127420845	GM12878	blood:	n/a	n/a
43	EGR1	chr5:127420418-127420902	MCF-7	breast:	n/a	chr5:127420677-127420686 chr5:127420677-127420687 chr5:127420677-127420687 chr5:127420675-127420689 chr5:127420677-127420688 chr5:127420676-127420689 chr5:127420673-127420687 chr5:127420676-127420689
44	TBP	chr5:127420596-127420879	GM12878	blood:	n/a	n/a
45	EGR1	chr5:127420584-127420767	GM12878	blood:	n/a	chr5:127420677-127420686 chr5:127420677-127420687 chr5:127420677-127420687 chr5:127420675-127420689 chr5:127420677-127420688 chr5:127420676-127420689 chr5:127420673-127420687 chr5:127420676-127420689
46	CTCF	chr5:127420600-127420750	AG04449	skin:	n/a	n/a
47	SIN3AK20	chr5:127420016-127420762	SK-N-SH	brain:	n/a	n/a
48	E2F6	chr5:127420617-127420791	K562	blood:	n/a	n/a
49	PML	chr5:127420213-127420994	GM12878	blood:	n/a	n/a
50	CCNT2	chr5:127418494-127420917	K562	blood:	n/a	chr5:127420429-127420438

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:127420684-127420734	NT2-D1	testis:	n/a
2	chr5:127420684-127420734	HCM	heart:	n/a
3	chr5:127420684-127420734	GM06990	blood:	n/a
4	chr5:127420684-127420734	PANC-1	pancreas:	n/a
5	chr5:127420684-127420734	GM12892	blood:	n/a
6	chr5:127420684-127420734	Jurkat	blood:	n/a
7	chr5:127420684-127420734	T-47D	breast:	n/a
8	chr5:127420684-127420734	RPTEC	kidney:	n/a
9	chr5:127420684-127420734	NB4	blood:	n/a
10	chr5:127420684-127420734	HRCEpiC	kidney:	n/a
11	chr5:127420684-127420734	Hepatocyte	liver:	n/a
12	chr5:127420684-127420734	Caco-2	colon:	n/a
13	chr5:127420684-127420734	HAEpiC	amniotic membrane:	n/a
14	chr5:127420684-127420734	AG09309	skin:	n/a
15	chr5:127420684-127420734	SKMC	muscle:	n/a
16	chr5:127420684-127420734	U87	brain:	n/a
17	chr5:127420684-127420734	HIPEpiC	eye:	n/a
18	chr5:127420684-127420734	GM19239	blood:	n/a
19	chr5:127420684-127420734	AG04450	lung:	fetal
20	chr5:127420684-127420734	HNPCEpiC	eye:	n/a
21	chr5:127420684-127420734	HepG2	liver:	n/a
22	chr5:127420684-127420734	ECC-1	luminal epithelium:	n/a
23	chr5:127420684-127420734	Hela-S3	cervix:	n/a
24	chr5:127420684-127420734	HRPEpiC	eye:	n/a
25	chr5:127420684-127420734	PrEC	prostate:	n/a
26	chr5:127420684-127420734	H1-hESC	embryonic stem cell:	embryo
27	chr5:127420684-127420734	BJ	skin:	n/a
28	chr5:127420684-127420734	SAEC	small airway:	n/a
29	chr5:127420684-127420734	NHDF-neo	bronchial:	n/a
30	chr5:127420684-127420734	AG09319	gingival:	n/a
31	chr5:127420684-127420734	HEK293	kidney:	embryo
32	chr5:127420684-127420734	HRE	kidney:	n/a
33	chr5:127420684-127420734	SK-N-MC	brain:	n/a
34	chr5:127420684-127420734	HCT-116	colon:	n/a
35	chr5:127420684-127420734	MCF-7	breast:	n/a
36	chr5:127420684-127420734	IMR90	lung:	fetal
37	chr5:127420684-127420734	BE2_C	brain:	n/a
38	chr5:127420684-127420734	K562	blood:	n/a
39	chr5:127420684-127420734	MCF10A-Er-Src	breast:	n/a
40	chr5:127420684-127420734	CMK	blood:	n/a
41	chr5:127420684-127420734	AoSMC	blood vessel:	n/a
42	chr5:127420684-127420734	AG04449	skin:	fetal
43	chr5:127420684-127420734	HEEpiC	esophagus:	n/a
44	chr5:127420684-127420734	SK-N-SH	brain:	n/a
45	chr5:127420684-127420734	HCPEpiC	choroid plexus:	n/a
46	chr5:127420684-127420734	ovcar-3	ovarian:	n/a
47	chr5:127420684-127420734	A549	lung:	n/a
48	chr5:127420684-127420734	HL-60	blood:	n/a
49	chr5:127420684-127420734	NH-A	brain:	n/a
50	chr5:127420684-127420734	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:127419152..127422053-chr5:130501089..130503265,2	K562	blood:
2	chr5:127417788..127421083-chr5:127443681..127446699,3	K562	blood:
3	chr5:127419680..127422098-chr5:127455082..127457823,2	MCF-7	breast:
4	chr5:126885413..126887008-chr5:127420669..127422441,2	MCF-7	breast:
5	chr5:127267226..127272789-chr5:127416073..127421756,7	MCF-7	breast:
6	chr5:127267836..127272333-chr5:127416528..127421531,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245937	TF binding region
ENSG00000245937	CpG island
ENSG00000169567	Chromatin interaction
ENSG00000250329	Chromatin interaction
ENSG00000230561	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10045113	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10045307	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10057122	0.81[AMR][1000 genomes]
rs10059867	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10060181	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10060390	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10061367	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10064098	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10064357	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10089	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes]
rs1012851	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10223203	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1036171	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10463838	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10463839	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10478796	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10478798	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10478803	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11957052	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13355233	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13356473	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13357268	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13358455	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1368270	0.83[CHB][hapmap]
rs1432614	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1432615	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1559263	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1560636	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17164310	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17164427	0.88[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17764954	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1842006	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1864923	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962291	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1985268	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2016015	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2054444	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2190797	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2228112	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2409109	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2898096	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3087889	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35212223	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3792866	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3805606	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3805612	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3805615	1.00[CEU][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3816006	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4835940	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835941	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835942	0.83[MEX][hapmap]
rs4835943	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4835944	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4835945	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4836358	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4836359	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4836360	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836361	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836363	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4836366	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4836367	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4836368	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4836369	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4836370	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56066100	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58433932	0.91[AMR][1000 genomes]
rs60964984	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62373701	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6595798	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6595800	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6595806	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595807	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6862701	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6873339	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6875982	0.83[EUR][1000 genomes]
rs6879970	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6887674	0.83[EUR][1000 genomes]
rs6887847	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794392	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72794396	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72794400	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72794401	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs736969	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs758179	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7703634	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7713860	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7718286	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7732599	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs790156	0.85[LWK][hapmap];0.95[YRI][hapmap]
rs806100	0.82[LWK][hapmap];0.91[YRI][hapmap]
rs883074	1.00[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs891886	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9968597	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv4993	chr5:127405214-127445622	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3527607	chr5:127406703-127421401	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3527608	chr5:127406703-127421401	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1812864	chr5:127408921-127427533	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1864922	FBN2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127416600-127421600	Active TSS	HSMMtube	muscle
2	chr5:127416800-127424200	Active TSS	GM12878-XiMat	blood
3	chr5:127417000-127422400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr5:127417000-127424200	Active TSS	Stomach Smooth Muscle	stomach
5	chr5:127417200-127421600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:127417400-127420800	Active TSS	Aorta	Aorta
7	chr5:127417400-127420800	Active TSS	Colon Smooth Muscle	Colon
8	chr5:127417400-127421000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:127417400-127421000	Active TSS	HSMM	muscle
10	chr5:127417400-127421000	Active TSS	NHEK	skin
11	chr5:127417400-127421200	Active TSS	Rectal Smooth Muscle	rectum
12	chr5:127417400-127421200	Active TSS	NHLF	lung
13	chr5:127417400-127421400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:127417400-127421400	Active TSS	Stomach Mucosa	stomach
15	chr5:127417400-127421400	Active TSS	NHDF-Ad	bronchial
16	chr5:127417400-127422400	Active TSS	Brain Angular Gyrus	brain
17	chr5:127417400-127422800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:127417400-127422800	Active TSS	Brain Substantia Nigra	brain
19	chr5:127417400-127423200	Active TSS	Brain Anterior Caudate	brain
20	chr5:127417400-127423400	Active TSS	Ovary	ovary
21	chr5:127417400-127423800	Active TSS	Fetal Intestine Large	intestine
22	chr5:127417400-127424400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr5:127417600-127421800	Active TSS	Brain Cingulate Gyrus	brain
24	chr5:127417600-127422200	Active TSS	Psoas Muscle	Psoas
25	chr5:127417600-127422400	Active TSS	A549	lung
26	chr5:127417600-127422800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:127417600-127423000	Active TSS	Brain Hippocampus Middle	brain
28	chr5:127417800-127420800	Active TSS	Gastric	stomach
29	chr5:127417800-127421000	Active TSS	Left Ventricle	heart
30	chr5:127417800-127421000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr5:127418000-127420800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:127418000-127421200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:127418000-127421400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:127418200-127420800	Active TSS	Small Intestine	intestine
35	chr5:127418600-127421000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:127418600-127421400	Active TSS	Fetal Thymus	thymus
37	chr5:127418600-127421400	Active TSS	HepG2	liver
38	chr5:127419200-127423000	Active TSS	Right Atrium	heart
39	chr5:127419400-127421600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:127419800-127421000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr5:127420000-127420800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:127420000-127420800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:127420000-127420800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
44	chr5:127420000-127420800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:127420000-127420800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:127420000-127421000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:127420000-127421000	Flanking Active TSS	Pancreas	Pancrea
48	chr5:127420000-127421200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr5:127420000-127421600	Active TSS	Fetal Brain Male	brain
50	chr5:127420000-127421800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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