Variant report

Variant	rs34353529
Chromosome Location	chr2:189156279-189156280
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	BCL3	chr2:189155922-189158712	A549	lung:	n/a	chr2:189157703-189157716 chr2:189157243-189157252 chr2:189158254-189158263 chr2:189157574-189157583 chr2:189157571-189157580
2	POLR2A	chr2:189156217-189158013	H1-hESC	embryonic stem cell:	n/a	n/a
3	TRIM28	chr2:189156162-189156732	K562	blood:	n/a	chr2:189156384-189156392
4	TAF1	chr2:189156176-189158026	SK-N-SH	brain:	n/a	n/a
5	BACH1	chr2:189156107-189156725	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:189155814-189156557	A549	lung:	n/a	n/a
7	ZNF384	chr2:189155976-189156698	K562	blood:	n/a	n/a
8	NRF1	chr2:189156089-189158310	SK-N-SH	brain:	n/a	chr2:189157027-189157036
9	TAF1	chr2:189156130-189158032	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr2:189156052-189158000	K562	blood:	n/a	chr2:189157243-189157253 chr2:189157025-189157035
11	ZBTB7A	chr2:189156090-189156772	K562	blood:	n/a	n/a
12	HDAC2	chr2:189156103-189156645	H1-hESC	embryonic stem cell:	n/a	chr2:189156232-189156241
13	ZMIZ1	chr2:189156103-189156671	K562	blood:	n/a	n/a
14	POLR2A	chr2:189156181-189158016	HUVEC	blood vessel:	n/a	n/a
15	MYC	chr2:189156105-189156691	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr2:189155919-189156933	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr2:189155967-189158844	PFSK-1	brain:	n/a	n/a
18	MAX	chr2:189155952-189158089	SK-N-SH	brain:	n/a	chr2:189157243-189157253 chr2:189157025-189157035
19	POLR2A	chr2:189155830-189159188	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr2:189155955-189158565	Hela-S3	cervix:	n/a	n/a
21	CCNT2	chr2:189156254-189157761	K562	blood:	n/a	chr2:189157430-189157439
22	E2F6	chr2:189156081-189157829	K562	blood:	n/a	chr2:189157240-189157250 chr2:189156415-189156430 chr2:189157242-189157251
23	TEAD4	chr2:189156216-189156866	K562	blood:	n/a	n/a
24	EP300	chr2:189156203-189158072	SK-N-SH	brain:	n/a	chr2:189157240-189157256
25	MAZ	chr2:189155877-189158053	K562	blood:	n/a	chr2:189157243-189157253 chr2:189157025-189157035
26	RAD21	chr2:189155915-189159055	IMR90	lung:	n/a	chr2:189157053-189157062 chr2:189157634-189157648
27	CHD2	chr2:189156024-189156668	K562	blood:	n/a	n/a
28	RFX5	chr2:189156269-189156286	K562	blood:	n/a	n/a
29	BCL3	chr2:189156235-189158090	A549	lung:	n/a	chr2:189157703-189157716 chr2:189157243-189157252 chr2:189157574-189157583 chr2:189157571-189157580
30	RAD21	chr2:189156212-189156968	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr2:189155947-189157896	H1-hESC	embryonic stem cell:	n/a	chr2:189157053-189157062 chr2:189157634-189157648
32	POLR2A	chr2:189156014-189158150	PANC-1	pancreas:	n/a	n/a
33	EGR1	chr2:189156257-189156610	K562	blood:	n/a	n/a
34	GATA1	chr2:189155942-189156940	K562	blood:	n/a	chr2:189156233-189156240 chr2:189156226-189156247 chr2:189156233-189156240 chr2:189156228-189156244 chr2:189156231-189156241 chr2:189156233-189156240
35	EP300	chr2:189156202-189158846	ECC-1	luminal epithelium:	n/a	chr2:189157240-189157256 chr2:189158507-189158521
36	GTF2B	chr2:189156030-189156475	K562	blood:	n/a	n/a
37	SMC3	chr2:189155238-189159444	SK-N-SH	brain:	n/a	chr2:189157006-189157013
38	HMGN3	chr2:189156243-189157769	K562	blood:	n/a	n/a
39	REST	chr2:189156170-189157853	SK-N-SH	brain:	n/a	chr2:189156995-189157004
40	SIN3AK20	chr2:189156059-189156922	A549	lung:	n/a	n/a
41	SMC3	chr2:189156278-189156893	Hela-S3	cervix:	n/a	n/a
42	MAX	chr2:189156251-189156675	K562	blood:	n/a	n/a
43	ZBTB7A	chr2:189156187-189157789	ECC-1	luminal epithelium:	n/a	chr2:189157504-189157511
44	POLR2A	chr2:189155853-189157960	K562	blood:	n/a	n/a
45	TBP	chr2:189155902-189159014	H1-hESC	embryonic stem cell:	n/a	n/a
46	TEAD4	chr2:189156033-189158054	ECC-1	luminal epithelium:	n/a	chr2:189157766-189157775
47	NFIC	chr2:189156175-189158112	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr2:189155969-189156878	K562	blood:	n/a	n/a
49	TEAD4	chr2:189156193-189156709	K562	blood:	n/a	n/a
50	FOSL2	chr2:189155990-189156773	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:189140399..189142820-chr2:189154292..189157242,2	MCF-7	breast:
2	chr2:189156064..189158162-chr2:189159992..189162914,5	K562	blood:
3	chr2:189148121..189153367-chr2:189154784..189162424,9	K562	blood:
4	chr2:189150760..189152775-chr2:189155394..189157750,2	MCF-7	breast:
5	chr2:189155055..189158409-chr2:189159948..189163832,8	K562	blood:

Variant related genes	Relation type
GULP1	TF binding region
LINC01090	TF binding region
ENSG00000207951	Chromatin interaction
ENSG00000231689	Chromatin interaction
ENSG00000200650	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10168305	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170220	0.92[CEU][hapmap]
rs10174928	0.92[CEU][hapmap];0.84[YRI][hapmap]
rs10175838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179504	0.83[EUR][1000 genomes]
rs10179836	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179899	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184703	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187646	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187791	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189416	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195059	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10199261	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204144	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210696	0.81[CEU][hapmap]
rs10211189	0.92[CEU][hapmap];0.84[YRI][hapmap]
rs10469734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469735	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931333	0.82[EUR][1000 genomes]
rs10931355	0.92[CEU][hapmap]
rs10931358	0.89[CEU][hapmap]
rs10931363	1.00[JPT][hapmap]
rs1125099	0.92[CEU][hapmap]
rs12329399	0.92[CEU][hapmap];0.89[YRI][hapmap]
rs12693490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693494	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693495	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987018	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987194	0.81[MEX][hapmap]
rs12987553	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995107	0.82[EUR][1000 genomes]
rs12995727	1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12997847	1.00[CEU][hapmap]
rs13000379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003679	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007721	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021294	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024023	1.00[CHB][hapmap]
rs13025659	1.00[JPT][hapmap]
rs13027220	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029662	0.82[EUR][1000 genomes]
rs13032231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385282	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386959	1.00[JPT][hapmap]
rs13388746	0.92[CEU][hapmap];0.82[YRI][hapmap]
rs13390401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390524	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392850	1.00[JPT][hapmap]
rs13394232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394422	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397653	1.00[JPT][hapmap]
rs13403228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404958	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413164	1.00[ASN][1000 genomes]
rs13414327	1.00[JPT][hapmap]
rs13418031	1.00[JPT][hapmap]
rs13424536	0.85[CEU][hapmap]
rs13429075	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371527	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs1371528	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs2004888	0.92[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];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572636	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000922	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34066981	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34135749	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34140900	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34142137	0.82[EUR][1000 genomes]
rs34253555	0.81[AMR][1000 genomes]
rs34358898	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34395949	0.80[EUR][1000 genomes]
rs34484855	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34555222	0.82[EUR][1000 genomes]
rs34557812	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34575499	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34583514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762706	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762794	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35015018	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35060323	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35196443	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35325130	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35355034	0.82[EUR][1000 genomes]
rs35442646	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536225	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699394	0.80[EUR][1000 genomes]
rs35877064	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36174757	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3889818	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3924673	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4128404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4381754	0.92[CEU][hapmap]
rs4398237	0.85[CEU][hapmap]
rs4430902	0.81[MEX][hapmap]
rs4433962	0.92[CEU][hapmap];0.84[YRI][hapmap];0.83[EUR][1000 genomes]
rs4453658	1.00[JPT][hapmap]
rs4513258	0.85[CEU][hapmap]
rs4522565	0.92[CEU][hapmap]
rs4535011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666757	0.82[EUR][1000 genomes]
rs4666758	0.85[CEU][hapmap]
rs4667219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667226	0.92[CEU][hapmap]
rs4667229	1.00[JPT][hapmap]
rs4992742	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992743	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992744	0.81[MEX][hapmap]
rs55852512	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6434277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66948063	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66993342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709557	1.00[JPT][hapmap]
rs6718697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720002	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729182	0.85[CEU][hapmap]
rs67344766	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737728	0.92[CEU][hapmap]
rs67389016	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739162	0.92[CEU][hapmap]
rs6743636	0.92[CEU][hapmap]
rs6744275	1.00[JPT][hapmap]
rs6748077	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67621133	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67804812	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901602	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72909512	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72909520	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72911423	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7420700	0.92[CEU][hapmap]
rs7571197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579554	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593215	0.92[CEU][hapmap];0.84[YRI][hapmap]
rs7593232	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9288151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9288152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288153	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971268	1.00[CHB][hapmap]
rs9808523	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34353529	COL3A1	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189155200-189161800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:189155400-189156400	Flanking Active TSS	Fetal Heart	heart
3	chr2:189155400-189158400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:189155400-189160800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:189155400-189161000	Active TSS	Aorta	Aorta
6	chr2:189155400-189161200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:189155400-189161200	Active TSS	K562	blood
8	chr2:189155400-189161600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:189155600-189157000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr2:189155600-189157200	Active TSS	Brain Germinal Matrix	brain
11	chr2:189155600-189158600	Active TSS	Fetal Brain Female	brain
12	chr2:189155600-189158600	Active TSS	NHLF	lung
13	chr2:189155600-189161200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr2:189155600-189161600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:189155600-189161800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:189155800-189156400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:189155800-189156400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:189155800-189156400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr2:189155800-189157800	Active TSS	Brain Hippocampus Middle	brain
20	chr2:189155800-189157800	Active TSS	Osteobl	bone
21	chr2:189155800-189158000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:189155800-189158000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:189155800-189158200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr2:189155800-189158200	Active TSS	HMEC	breast
25	chr2:189155800-189158400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:189155800-189158400	Active TSS	Placenta Amnion	Placenta Amnion
27	chr2:189155800-189158800	Active TSS	Brain Anterior Caudate	brain
28	chr2:189155800-189159000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr2:189155800-189159200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr2:189155800-189159200	Active TSS	Ovary	ovary
31	chr2:189155800-189159200	Active TSS	Psoas Muscle	Psoas
32	chr2:189155800-189159400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:189155800-189159400	Active TSS	Fetal Intestine Small	intestine
34	chr2:189155800-189159400	Active TSS	Right Atrium	heart
35	chr2:189155800-189159800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:189155800-189160000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:189155800-189160200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr2:189155800-189160200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:189155800-189160200	Active TSS	Fetal Intestine Large	intestine
40	chr2:189155800-189161200	Active TSS	Placenta	Placenta
41	chr2:189155800-189161200	Active TSS	A549	lung
42	chr2:189155800-189161400	Active TSS	H1 Cell Line	embryonic stem cell
43	chr2:189156000-189156400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:189156000-189156400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
45	chr2:189156000-189156600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:189156000-189156600	Flanking Active TSS	NHEK	skin
47	chr2:189156000-189156800	Active TSS	Fetal Stomach	stomach
48	chr2:189156000-189156800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr2:189156000-189157400	Active TSS	Pancreas	Pancrea
50	chr2:189156000-189157400	Active TSS	Small Intestine	intestine

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