Variant report

Variant	rs1747811
Chromosome Location	chr1:197653036-197653037
allele	G/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	POLR2A	chr1:197652959-197653396	SK-N-SH	brain:	n/a	n/a
2	TCF7L2	chr1:197652933-197653225	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr1:197652650-197653346	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:197652947-197653339	MCF10A-Er-Src	breast:	n/a	chr1:197653142-197653149
5	NFIC	chr1:197652845-197653565	SK-N-SH	brain:	n/a	n/a
6	TCF7L2	chr1:197652853-197653738	HEK293	kidney:	n/a	n/a
7	POLR2A	chr1:197652948-197653097	GM12878	blood:	n/a	n/a
8	PBX3	chr1:197652915-197653499	SK-N-SH	brain:	n/a	n/a
9	FOS	chr1:197652972-197653244	MCF10A-Er-Src	breast:	n/a	chr1:197653142-197653149
10	TCF7L2	chr1:197652899-197653434	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:197652946-197653483	SK-N-MC	brain:	n/a	n/a
12	EP300	chr1:197652296-197654136	SK-N-SH	brain:	n/a	chr1:197653623-197653637
13	TCF7L2	chr1:197652936-197653397	MCF-7	breast:	n/a	n/a
14	TFAP2C	chr1:197652905-197653341	Hela-S3	cervix:	n/a	n/a
15	JUND	chr1:197652896-197653500	SK-N-SH	brain:	n/a	chr1:197653142-197653149
16	STAT3	chr1:197652968-197653296	MCF10A-Er-Src	breast:	n/a	n/a
17	MAX	chr1:197652904-197653317	Hela-S3	cervix:	n/a	n/a
18	TCF12	chr1:197652846-197653617	SK-N-SH	brain:	n/a	n/a
19	TFAP2A	chr1:197652930-197653330	Hela-S3	cervix:	n/a	chr1:197653110-197653121 chr1:197653109-197653124 chr1:197653110-197653121 chr1:197653110-197653121 chr1:197653110-197653121
20	RAD21	chr1:197652951-197653225	SK-N-SH_RA	brain:	n/a	n/a
21	GATA2	chr1:197652388-197654202	SH-SY5Y	brain:	n/a	chr1:197653738-197653745 chr1:197653737-197653747 chr1:197653811-197653823 chr1:197653835-197653842 chr1:197653738-197653747 chr1:197653738-197653745 chr1:197653812-197653822 chr1:197653736-197653748 chr1:197653738-197653745 chr1:197653731-197653752 chr1:197653813-197653822 chr1:197653809-197653825 chr1:197653738-197653747 chr1:197653813-197653822
22	STAT3	chr1:197652967-197653279	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr1:197653006-197653368	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr1:197652857-197653589	MCF10A-Er-Src	breast:	n/a	chr1:197653142-197653149
25	GATA3	chr1:197652355-197653989	SH-SY5Y	brain:	n/a	chr1:197653738-197653745 chr1:197653737-197653747 chr1:197653811-197653823 chr1:197653835-197653842 chr1:197653738-197653747 chr1:197653738-197653745 chr1:197653812-197653822 chr1:197653736-197653748 chr1:197653738-197653745 chr1:197653731-197653752 chr1:197653813-197653822 chr1:197653809-197653825 chr1:197653738-197653747 chr1:197653813-197653822
26	MYC	chr1:197653030-197653270	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr1:197652967-197653284	MCF10A-Er-Src	breast:	n/a	n/a
28	PBX3	chr1:197652871-197653614	SK-N-SH	brain:	n/a	n/a
29	CUX1	chr1:197652937-197653134	K562	blood:	n/a	n/a
30	GATA3	chr1:197652799-197653856	SK-N-SH	brain:	n/a	chr1:197653738-197653745 chr1:197653737-197653747 chr1:197653811-197653823 chr1:197653835-197653842 chr1:197653738-197653747 chr1:197653738-197653745 chr1:197653812-197653822 chr1:197653736-197653748 chr1:197653738-197653745 chr1:197653731-197653752 chr1:197653813-197653822 chr1:197653809-197653825 chr1:197653738-197653747 chr1:197653813-197653822
31	EP300	chr1:197652983-197653406	SK-N-SH_RA	brain:	n/a	n/a
32	GATA3	chr1:197652845-197653814	SK-N-SH	brain:	n/a	chr1:197653738-197653745 chr1:197653737-197653747 chr1:197653738-197653747 chr1:197653738-197653745 chr1:197653736-197653748 chr1:197653738-197653745 chr1:197653731-197653752 chr1:197653738-197653747
33	EP300	chr1:197652824-197653583	SK-N-SH	brain:	n/a	n/a
34	MYC	chr1:197652987-197653243	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr1:197652915-197653324	MCF10A-Er-Src	breast:	n/a	chr1:197653142-197653149
36	EP300	chr1:197652917-197653454	SK-N-SH_RA	brain:	n/a	n/a
37	TEAD4	chr1:197652878-197653500	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197645784..197649649-chr1:197651122..197654150,3	K562	blood:
2	chr1:197652165..197657690-chr1:197657725..197663370,6	K562	blood:

Variant related genes	Relation type
EEF1A1P32	TF binding region
ENSG00000213046	Chromatin interaction

Extended variants
information (count: 199 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:193)

rs_ID	r²[population]
rs10442656	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10442660	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10494758	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10737692	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10754224	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10754225	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801614	0.89[CHB][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10922251	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922253	0.95[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10922255	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10922256	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922257	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922258	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10922261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922262	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922288	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.91[ASN][1000 genomes]
rs10922292	0.83[ASN][1000 genomes]
rs10922293	0.93[ASN][1000 genomes]
rs12022672	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12025476	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12028758	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12041661	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12116508	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12116519	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12117095	0.83[ASN][1000 genomes]
rs12125739	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12125742	0.93[ASN][1000 genomes]
rs12127369	0.83[ASN][1000 genomes]
rs12127378	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12129043	0.93[ASN][1000 genomes]
rs12131160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12133885	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12137370	0.87[ASN][1000 genomes]
rs12562684	0.82[ASN][1000 genomes]
rs12563307	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12563879	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12565840	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12731480	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12740849	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.91[ASN][1000 genomes]
rs12740869	0.91[ASN][1000 genomes]
rs12744898	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12747786	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1342694	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1342696	0.94[CEU][hapmap];0.92[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1362939	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1421397	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1499592	0.93[ASN][1000 genomes]
rs1499593	0.94[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1539413	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573098	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573099	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1578718	0.83[ASN][1000 genomes]
rs1578719	0.93[ASN][1000 genomes]
rs1578720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1592220	0.93[ASN][1000 genomes]
rs1592221	0.93[ASN][1000 genomes]
rs1621898	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622740	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.93[ASN][1000 genomes]
rs1622904	0.93[ASN][1000 genomes]
rs1623752	0.93[ASN][1000 genomes]
rs16829934	1.00[YRI][hapmap]
rs1747812	0.93[ASN][1000 genomes]
rs1747813	0.87[ASN][1000 genomes]
rs1747814	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1747815	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1747817	0.94[ASN][1000 genomes]
rs1747818	0.85[ASN][1000 genomes]
rs1747820	0.93[ASN][1000 genomes]
rs1747821	0.93[ASN][1000 genomes]
rs1747822	0.95[CEU][hapmap];0.92[CHB][hapmap];0.96[GIH][hapmap];0.93[TSI][hapmap];0.83[ASN][1000 genomes]
rs1747823	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1747824	0.93[ASN][1000 genomes]
rs1747825	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1747826	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1747827	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1747828	0.93[ASN][1000 genomes]
rs17565558	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17622452	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1775441	0.94[ASN][1000 genomes]
rs1775442	0.94[ASN][1000 genomes]
rs1775443	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1775444	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1775445	0.93[ASN][1000 genomes]
rs1775446	0.82[ASN][1000 genomes]
rs1775447	0.90[ASN][1000 genomes]
rs1775450	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775451	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775453	0.85[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775454	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1775456	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1775457	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775458	0.83[ASN][1000 genomes]
rs1775459	0.83[ASN][1000 genomes]
rs1775460	0.83[ASN][1000 genomes]
rs1775461	0.93[ASN][1000 genomes]
rs1775462	0.83[ASN][1000 genomes]
rs1775463	0.93[ASN][1000 genomes]
rs1775464	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1775465	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1775466	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.93[ASN][1000 genomes]
rs1775467	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.93[ASN][1000 genomes]
rs1775468	0.94[CEU][hapmap];0.92[CHB][hapmap];0.96[GIH][hapmap];0.93[TSI][hapmap];0.83[ASN][1000 genomes]
rs1775469	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1775470	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1833464	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1891497	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924518	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1969	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016722	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2111931	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2133535	0.93[ASN][1000 genomes]
rs2133536	0.83[ASN][1000 genomes]
rs2147300	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160969	0.83[ASN][1000 genomes]
rs2193733	0.95[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2193734	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2253257	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2265664	0.93[ASN][1000 genomes]
rs2266033	0.93[ASN][1000 genomes]
rs2266034	0.93[ASN][1000 genomes]
rs2266035	0.93[ASN][1000 genomes]
rs2358774	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2454640	0.83[ASN][1000 genomes]
rs2454641	0.80[ASN][1000 genomes]
rs2477060	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477063	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477065	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2477066	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2477069	0.95[CEU][hapmap];0.92[CHB][hapmap];0.91[GIH][hapmap];0.83[ASN][1000 genomes]
rs2477070	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2477071	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2477074	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477075	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477076	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477553	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2488387	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2488390	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2488394	0.95[CEU][hapmap];0.92[CHB][hapmap];0.96[GIH][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2488395	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2488396	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2488400	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2488402	0.93[ASN][1000 genomes]
rs2488403	0.93[ASN][1000 genomes]
rs2488404	0.84[ASN][1000 genomes]
rs2488409	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2488410	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488411	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2497862	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs2497863	0.93[ASN][1000 genomes]
rs2649556	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs2649557	0.93[ASN][1000 genomes]
rs2797147	0.93[ASN][1000 genomes]
rs34261593	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34548547	0.83[ASN][1000 genomes]
rs35170775	0.93[ASN][1000 genomes]
rs3814321	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4303099	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4316386	0.81[EUR][1000 genomes]
rs4915248	0.93[ASN][1000 genomes]
rs4915550	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4915552	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4915554	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4915555	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4915557	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4915558	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4915566	0.90[ASN][1000 genomes]
rs55873039	0.93[ASN][1000 genomes]
rs61829272	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61829341	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61830571	0.93[ASN][1000 genomes]
rs6428410	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6428411	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6428412	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6658157	0.83[ASN][1000 genomes]
rs6672023	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6676073	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6676795	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6677361	0.95[CEU][hapmap];0.84[CHB][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6682689	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6688993	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6689216	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6691173	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6697696	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs6698921	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6704186	0.94[CEU][hapmap];0.83[ASN][1000 genomes]
rs7523909	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7526770	0.91[ASN][1000 genomes]
rs7526846	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7531581	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7538522	0.93[ASN][1000 genomes]
rs7544969	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8179369	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs972405	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197640800-197657600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:197644000-197656000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:197645200-197661000	Weak transcription	Esophagus	oesophagus
4	chr1:197645400-197655600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:197645600-197657400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:197647200-197657400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:197650000-197654800	Weak transcription	Liver	Liver
8	chr1:197650800-197653600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:197651800-197653400	Enhancers	Fetal Lung	lung
10	chr1:197652000-197654800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:197652200-197655800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:197652400-197653200	Enhancers	Right Atrium	heart
13	chr1:197652400-197653400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:197652400-197653600	Enhancers	Fetal Heart	heart
15	chr1:197652400-197654000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:197652600-197653200	Enhancers	Left Ventricle	heart
17	chr1:197652600-197653200	Enhancers	Right Ventricle	heart
18	chr1:197652600-197653400	Flanking Active TSS	NHEK	skin
19	chr1:197652600-197653600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:197652600-197653600	Enhancers	HMEC	breast
21	chr1:197652600-197657000	Weak transcription	Pancreas	Pancrea
22	chr1:197652800-197653200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:197652800-197653400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:197652800-197653400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:197652800-197653400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr1:197652800-197653400	Enhancers	Hela-S3	cervix
27	chr1:197652800-197657200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:197653000-197653200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:197653000-197653200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:197653000-197653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:197653000-197653600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:197653000-197653600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:197653000-197665200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:197653000-197665400	Weak transcription	Osteobl	bone

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