Variant report

Variant	rs12693491
Chromosome Location	chr2:189158620-189158621
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	TCF12	chr2:189158096-189158908	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr2:189158223-189158830	ECC-1	luminal epithelium:	n/a	n/a
3	BCL3	chr2:189155922-189158712	A549	lung:	n/a	chr2:189157703-189157716 chr2:189157243-189157252 chr2:189158254-189158263 chr2:189157574-189157583 chr2:189157571-189157580
4	NFIC	chr2:189156968-189159018	ECC-1	luminal epithelium:	n/a	chr2:189158527-189158543 chr2:189158526-189158543 chr2:189158525-189158542
5	SIN3AK20	chr2:189158244-189158717	PFSK-1	brain:	n/a	n/a
6	REST	chr2:189158260-189158649	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr2:189155967-189158844	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr2:189155830-189159188	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZBTB7A	chr2:189158302-189158855	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr2:189155915-189159055	IMR90	lung:	n/a	chr2:189157053-189157062 chr2:189157634-189157648
11	CHD1	chr2:189156501-189161129	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA3	chr2:189158135-189159361	SK-N-SH	brain:	n/a	chr2:189158773-189158783 chr2:189158225-189158238 chr2:189158770-189158786 chr2:189158774-189158783
13	TCF7L2	chr2:189157273-189159132	HEK293	kidney:	n/a	chr2:189158847-189158857
14	EP300	chr2:189156202-189158846	ECC-1	luminal epithelium:	n/a	chr2:189157240-189157256 chr2:189158507-189158521
15	SMC3	chr2:189155238-189159444	SK-N-SH	brain:	n/a	chr2:189157006-189157013
16	GATA3	chr2:189158163-189159250	SK-N-SH	brain:	n/a	chr2:189158773-189158783 chr2:189158225-189158238 chr2:189158770-189158786 chr2:189158774-189158783
17	TBP	chr2:189155902-189159014	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr2:189158171-189158769	SK-N-SH	brain:	n/a	n/a
19	NFIC	chr2:189158188-189158847	SK-N-SH	brain:	n/a	chr2:189158527-189158543 chr2:189158526-189158543 chr2:189158525-189158542
20	POLR2A	chr2:189158219-189158717	HCT-116	colon:	n/a	n/a
21	POLR2A	chr2:189158286-189158748	HUVEC	blood vessel:	n/a	n/a
22	RAD21	chr2:189155121-189159652	SK-N-SH	brain:	n/a	chr2:189157053-189157062 chr2:189157634-189157648
23	POLR2A	chr2:189156081-189159271	K562	blood:	n/a	n/a
24	TCF7L2	chr2:189158184-189159471	PANC-1	pancreas:	n/a	chr2:189158847-189158857
25	TEAD4	chr2:189158192-189158773	ECC-1	luminal epithelium:	n/a	n/a
26	MAZ	chr2:189158395-189159142	K562	blood:	n/a	n/a
27	POLR2A	chr2:189158155-189158942	PANC-1	pancreas:	n/a	n/a
28	REST	chr2:189155893-189158777	A549	lung:	n/a	chr2:189156995-189157004
29	EP300	chr2:189158229-189158662	SK-N-SH_RA	brain:	n/a	chr2:189158507-189158521
30	MXI1	chr2:189155279-189161412	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr2:189158291-189158962	SK-N-SH	brain:	n/a	n/a
32	PBX3	chr2:189158249-189158777	SK-N-SH	brain:	n/a	n/a
33	REST	chr2:189158252-189158697	ECC-1	luminal epithelium:	n/a	n/a
34	SIN3A	chr2:189155875-189159442	H1-hESC	embryonic stem cell:	n/a	chr2:189156997-189157005
35	REST	chr2:189158299-189158673	PFSK-1	brain:	n/a	n/a
36	NFIC	chr2:189158123-189158924	ECC-1	luminal epithelium:	n/a	chr2:189158527-189158543 chr2:189158526-189158543 chr2:189158525-189158542
37	MXI1	chr2:189155585-189159113	IMR90	lung:	n/a	n/a
38	POLR2A	chr2:189155713-189158935	PANC-1	pancreas:	n/a	n/a
39	TAF1	chr2:189155942-189158854	A549	lung:	n/a	n/a
40	UBTF	chr2:189158404-189158813	K562	blood:	n/a	n/a
41	FOSL2	chr2:189157835-189158708	A549	lung:	n/a	n/a
42	MYC	chr2:189158416-189158949	K562	blood:	n/a	n/a
43	POLR2A	chr2:189155665-189158934	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr2:189155767-189159411	SK-N-SH	brain:	n/a	n/a
45	EP300	chr2:189158238-189159170	K562	blood:	n/a	chr2:189158507-189158521
46	SP1	chr2:189156028-189159050	A549	lung:	n/a	chr2:189157430-189157439 chr2:189158603-189158610 chr2:189157426-189157440 chr2:189156305-189156319 chr2:189156365-189156379
47	TAF1	chr2:189158255-189158718	PFSK-1	brain:	n/a	n/a
48	TCF12	chr2:189155774-189159211	A549	lung:	n/a	chr2:189156082-189156089
49	MAX	chr2:189155817-189159027	A549	lung:	n/a	chr2:189157243-189157253 chr2:189157025-189157035
50	TAF7	chr2:189155840-189159451	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189148121..189153367-chr2:189154784..189162424,9	K562	blood:

Variant related genes	Relation type
MIR561	TF binding region
ENSG00000231689	Chromatin interaction

Extended variants
information (count: 159 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10168305	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170220	0.92[CEU][hapmap]
rs10174928	0.92[CEU][hapmap];0.89[YRI][hapmap]
rs10175838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179504	0.83[EUR][1000 genomes]
rs10179836	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179899	0.89[AFR][1000 genomes];0.91[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];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184703	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187646	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187791	0.89[AFR][1000 genomes];0.91[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];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189416	0.87[AFR][1000 genomes];0.93[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	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199264	0.83[AFR][1000 genomes]
rs10204144	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210696	0.81[CEU][hapmap]
rs10211189	0.92[CEU][hapmap];0.89[YRI][hapmap]
rs10469734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[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];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10804021	1.00[JPT][hapmap]
rs10931333	0.82[EUR][1000 genomes]
rs10931355	0.92[CEU][hapmap];0.81[LWK][hapmap];0.84[YRI][hapmap]
rs10931358	0.89[CEU][hapmap]
rs10931363	1.00[JPT][hapmap]
rs1125099	0.92[CEU][hapmap]
rs12151691	0.84[AFR][1000 genomes]
rs12329399	0.92[CEU][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs12693490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693493	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693494	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693495	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693497	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987018	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987194	0.81[MEX][hapmap]
rs12987553	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995107	0.82[EUR][1000 genomes]
rs12995727	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[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	0.90[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	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021294	0.91[AFR][1000 genomes];0.91[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];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.89[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];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385282	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386959	1.00[JPT][hapmap]
rs13388723	0.83[AFR][1000 genomes]
rs13388746	0.92[CEU][hapmap];0.88[YRI][hapmap]
rs13390401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390524	0.89[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];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394422	0.93[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];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404958	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412312	0.83[AFR][1000 genomes]
rs13413164	1.00[ASN][1000 genomes]
rs13414327	1.00[JPT][hapmap]
rs13418031	1.00[JPT][hapmap]
rs13424536	0.85[CEU][hapmap]
rs13429075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.89[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572636	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000922	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34066981	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34135749	0.85[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]
rs34353529	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]
rs34358898	0.89[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	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34575499	0.87[AFR][1000 genomes];0.89[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	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	0.87[AFR][1000 genomes];0.89[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	0.93[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	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3889818	0.91[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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349309	0.86[AFR][1000 genomes]
rs4381754	0.92[CEU][hapmap]
rs4398237	0.85[CEU][hapmap]
rs4430902	0.81[MEX][hapmap]
rs4433962	0.92[CEU][hapmap];0.92[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4453658	1.00[JPT][hapmap]
rs4513258	0.85[CEU][hapmap]
rs4522565	0.92[CEU][hapmap];0.84[YRI][hapmap]
rs4535011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.89[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.87[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];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.89[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];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667226	0.92[CEU][hapmap]
rs4667229	1.00[JPT][hapmap]
rs4992742	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992743	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992744	0.81[MEX][hapmap]
rs55852512	0.84[AFR][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];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66948063	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66993342	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67086516	0.83[AFR][1000 genomes]
rs67092191	0.83[AFR][1000 genomes]
rs6709557	1.00[JPT][hapmap]
rs6718697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720002	0.89[AFR][1000 genomes];0.91[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];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729182	0.85[CEU][hapmap]
rs67344766	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737728	0.92[CEU][hapmap];0.95[YRI][hapmap]
rs67389016	0.87[AFR][1000 genomes];0.89[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	0.89[AFR][1000 genomes];0.89[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[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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.93[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];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579554	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593215	0.92[CEU][hapmap];0.89[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];0.84[YRI][hapmap]
rs9288152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288153	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971268	1.00[CHB][hapmap]
rs9808523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808557	1.00[CHB][hapmap];1.00[JPT][hapmap];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
rs12693491	COL3A1	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189155200-189161800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:189155400-189160800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:189155400-189161000	Active TSS	Aorta	Aorta
4	chr2:189155400-189161200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:189155400-189161200	Active TSS	K562	blood
6	chr2:189155400-189161600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:189155600-189161200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:189155600-189161600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:189155600-189161800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:189155800-189158800	Active TSS	Brain Anterior Caudate	brain
11	chr2:189155800-189159000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:189155800-189159200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:189155800-189159200	Active TSS	Ovary	ovary
14	chr2:189155800-189159200	Active TSS	Psoas Muscle	Psoas
15	chr2:189155800-189159400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:189155800-189159400	Active TSS	Fetal Intestine Small	intestine
17	chr2:189155800-189159400	Active TSS	Right Atrium	heart
18	chr2:189155800-189159800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr2:189155800-189160000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:189155800-189160200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr2:189155800-189160200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:189155800-189160200	Active TSS	Fetal Intestine Large	intestine
23	chr2:189155800-189161200	Active TSS	Placenta	Placenta
24	chr2:189155800-189161200	Active TSS	A549	lung
25	chr2:189155800-189161400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr2:189156000-189158800	Active TSS	Rectal Smooth Muscle	rectum
27	chr2:189156000-189158800	Active TSS	NHDF-Ad	bronchial
28	chr2:189156000-189159000	Active TSS	Esophagus	oesophagus
29	chr2:189156000-189159000	Active TSS	Fetal Kidney	kidney
30	chr2:189156000-189159000	Active TSS	Fetal Muscle Trunk	muscle
31	chr2:189156000-189159000	Active TSS	Right Ventricle	heart
32	chr2:189156000-189159000	Active TSS	Stomach Mucosa	stomach
33	chr2:189156000-189159200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:189156000-189159200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:189156000-189159200	Active TSS	Colon Smooth Muscle	Colon
36	chr2:189156000-189159600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:189156000-189159600	Active TSS	Stomach Smooth Muscle	stomach
38	chr2:189156000-189159800	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr2:189156000-189160000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:189156000-189160000	Active TSS	Brain Angular Gyrus	brain
41	chr2:189156000-189161000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:189156000-189161200	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr2:189156000-189161600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:189156200-189158800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:189156200-189158800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:189156200-189158800	Active TSS	Fetal Lung	lung
47	chr2:189156200-189159000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:189156200-189159400	Active TSS	Colonic Mucosa	Colon
49	chr2:189156200-189160800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr2:189156400-189159400	Active TSS	Duodenum Mucosa	Duodenum

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