Variant report

Variant	rs3810788
Chromosome Location	chr12:42720773-42720774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr12:42717644-42721241	Hela-S3	cervix:	n/a	n/a
2	MYC	chr12:42719741-42720935	MCF10A-Er-Src	breast:	n/a	chr12:42720471-42720480 chr12:42720472-42720481
3	MYC	chr12:42719373-42721051	NB4	blood:	n/a	chr12:42720471-42720480 chr12:42720472-42720481
4	POLR2A	chr12:42719442-42721621	GM12878	blood:	n/a	n/a
5	RFX5	chr12:42719012-42720786	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr12:42720700-42720850	HBMEC	blood vessel:	n/a	n/a
7	HCFC1	chr12:42720607-42720807	K562	blood:	n/a	n/a
8	MXI1	chr12:42718981-42721792	SK-N-SH	brain:	n/a	n/a
9	YY1	chr12:42720336-42720793	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:42719465-42721056	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:42719512-42720859	GM18951	blood:	n/a	n/a
12	POLR2A	chr12:42719567-42720867	K562	blood:	n/a	n/a
13	POLR2A	chr12:42720670-42720826	GM12878	blood:	n/a	n/a
14	RUNX3	chr12:42719477-42721055	GM12878	blood:	n/a	n/a
15	MAX	chr12:42720375-42720931	K562	blood:	n/a	chr12:42720471-42720480 chr12:42720472-42720481
16	POLR2A	chr12:42719295-42720943	PBDE	blood:	n/a	n/a
17	MAX	chr12:42719420-42720964	NB4	blood:	n/a	chr12:42720471-42720480 chr12:42720472-42720481
18	JUND	chr12:42719511-42720809	H1-hESC	embryonic stem cell:	n/a	chr12:42720472-42720480 chr12:42720470-42720481 chr12:42720471-42720480 chr12:42720470-42720482 chr12:42720472-42720481 chr12:42720472-42720479
19	POLR2A	chr12:42719284-42721000	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr12:42719386-42720873	K562	blood:	n/a	chr12:42720471-42720480 chr12:42720472-42720481
21	YY1	chr12:42720485-42720824	GM12878	blood:	n/a	n/a
22	CUX1	chr12:42720609-42720796	K562	blood:	n/a	n/a
23	WRNIP1	chr12:42719491-42721122	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:42719526-42721052	GM19193	blood:	n/a	n/a
25	BHLHE40	chr12:42720734-42721072	K562	blood:	n/a	n/a
26	MAX	chr12:42719459-42720842	GM12878	blood:	n/a	chr12:42720471-42720480 chr12:42720472-42720481
27	TBP	chr12:42719499-42721084	K562	blood:	n/a	n/a
28	POLR2A	chr12:42719539-42720907	NB4	blood:	n/a	n/a
29	POLR2A	chr12:42719360-42720929	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:42719298-42721698	GM12891	blood:	n/a	n/a
31	MXI1	chr12:42719401-42721130	IMR90	lung:	n/a	n/a
32	YY1	chr12:42720495-42720840	K562	blood:	n/a	n/a
33	ELF1	chr12:42720588-42720927	GM12878	blood:	n/a	chr12:42720762-42720775
34	ELF1	chr12:42720573-42720985	K562	blood:	n/a	chr12:42720762-42720775
35	SIN3A	chr12:42719604-42721022	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:42720413..42722226-chr12:42732799..42734474,2	K562	blood:
2	chr12:42536402..42539877-chr12:42717128..42721445,5	MCF-7	breast:
3	chr12:42631625..42634573-chr12:42719114..42721447,2	K562	blood:
4	chr12:42719966..42722637-chr12:42723927..42727064,4	K562	blood:
5	chr12:42536827..42538636-chr12:42719233..42721021,2	K562	blood:
6	chr12:42537125..42540322-chr12:42717377..42722308,7	MCF-7	breast:
7	chr12:42537136..42539433-chr12:42719521..42721782,2	K562	blood:
8	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
9	chr12:42718944..42722637-chr12:42724163..42726509,5	K562	blood:

Variant related genes	Relation type
PPHLN1	TF binding region
ZCRB1	TF binding region
ENSG00000015153	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000151233	Chromatin interaction

Extended variants
information (count: 185 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10400520	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10492386	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs10492387	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs10785332	0.92[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap]
rs10880263	0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs10880274	0.88[ASW][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap];0.94[LWK][hapmap];0.92[MKK][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs10880276	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs10880285	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];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880286	0.87[ASW][hapmap];0.93[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880290	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880291	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880292	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880293	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880296	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880299	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880300	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11181344	0.86[JPT][hapmap];0.84[YRI][hapmap]
rs11181347	0.92[CHB][hapmap];0.96[CHD][hapmap];0.80[GIH][hapmap];0.93[JPT][hapmap]
rs11181356	0.92[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.94[LWK][hapmap];0.89[MKK][hapmap]
rs11181359	0.92[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap]
rs11181383	0.85[AFR][1000 genomes]
rs11181384	0.93[JPT][hapmap]
rs11181388	0.92[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap]
rs11181411	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11181414	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181415	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181418	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181419	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181429	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11181430	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181431	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181434	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181437	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181438	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181441	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181444	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181445	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181447	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181448	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181451	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181457	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181458	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181459	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181460	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181470	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181474	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181478	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181480	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181481	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181482	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181489	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181495	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181498	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11181505	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11181506	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11829171	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831729	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11832055	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11834697	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11835257	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11835826	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227380	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227738	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227905	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228701	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228962	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12229262	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12229735	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12230215	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12230915	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12578431	0.91[ASN][1000 genomes]
rs12579560	0.84[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap]
rs12579754	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12580906	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12581574	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12581958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12582652	0.84[AFR][1000 genomes]
rs12582924	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1452104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17091018	0.92[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap]
rs17091102	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17091176	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1988893	0.92[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap]
rs2053943	1.00[CEU][hapmap];0.87[JPT][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs2053945	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2406675	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2406873	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2406874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2406970	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2406971	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2897568	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34852216	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810786	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];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810791	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810792	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3827523	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3852594	0.80[GIH][hapmap];0.86[JPT][hapmap];0.86[LWK][hapmap];0.83[MKK][hapmap];0.84[YRI][hapmap]
rs3852595	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3950231	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4382968	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55645737	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55653923	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55949213	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56036005	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56347355	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56404257	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56755189	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58220548	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58826545	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58984176	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59844371	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60131710	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60184016	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60846704	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60949933	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60971233	0.82[ASN][1000 genomes]
rs61375966	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61471584	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61924344	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs61924349	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61924352	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61924354	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61924355	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61924360	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61924365	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61924368	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61924370	0.82[AMR][1000 genomes]
rs61926561	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926562	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926563	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926566	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926568	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926570	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61926571	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926572	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926573	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926575	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926588	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61926595	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61926596	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61926597	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61926599	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61926600	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61940203	0.81[AFR][1000 genomes]
rs67215543	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7296847	0.92[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap]
rs73116436	0.90[AFR][1000 genomes]
rs73118491	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73118495	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73122434	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73124421	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7314223	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs746893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7485381	0.90[AFR][1000 genomes]
rs7955547	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7955802	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7956425	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7956485	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7958601	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7958963	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7959691	0.85[AMR][1000 genomes]
rs7960726	0.88[AFR][1000 genomes]
rs7963726	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965273	0.86[ASW][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];0.84[YRI][hapmap]
rs7966669	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7967131	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7970870	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7975971	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7976731	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7977710	1.00[YRI][hapmap]
rs880161	0.81[AFR][1000 genomes]
rs974218	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3810788	PRICKLE1	Cis_1M	lymphoblastoid	RTeQTL
rs3810788	ZCRB1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42718600-42720800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:42718600-42720800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:42718600-42720800	Active TSS	Rectal Smooth Muscle	rectum
4	chr12:42718600-42721000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:42718600-42721000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:42718600-42721400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:42718800-42720800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:42718800-42720800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:42718800-42720800	Active TSS	NHLF	lung
10	chr12:42718800-42721000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr12:42718800-42721600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:42719000-42720800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:42719000-42720800	Active TSS	Fetal Intestine Large	intestine
14	chr12:42719000-42720800	Active TSS	Fetal Stomach	stomach
15	chr12:42719000-42720800	Active TSS	Stomach Smooth Muscle	stomach
16	chr12:42719000-42720800	Active TSS	HSMMtube	muscle
17	chr12:42719000-42721000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:42719000-42721000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:42719000-42721000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:42719000-42721000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:42719000-42721000	Active TSS	A549	lung
22	chr12:42719000-42721000	Active TSS	HMEC	breast
23	chr12:42719000-42721200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:42719000-42721200	Active TSS	GM12878-XiMat	blood
25	chr12:42719000-42721800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:42719200-42720800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:42719200-42720800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr12:42719200-42720800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr12:42719200-42720800	Active TSS	Muscle Satellite Cultured Cells	--
30	chr12:42719200-42720800	Active TSS	Fetal Brain Female	brain
31	chr12:42719200-42720800	Active TSS	Fetal Kidney	kidney
32	chr12:42719200-42720800	Active TSS	Stomach Mucosa	stomach
33	chr12:42719200-42720800	Active TSS	NHDF-Ad	bronchial
34	chr12:42719200-42721000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:42719200-42721000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:42719200-42721000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:42719200-42721000	Active TSS	Fetal Intestine Small	intestine
38	chr12:42719200-42721200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:42719200-42721200	Active TSS	Ovary	ovary
40	chr12:42719200-42721200	Active TSS	K562	blood
41	chr12:42719200-42721600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr12:42719400-42720800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr12:42719400-42720800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:42719400-42720800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:42719400-42720800	Active TSS	Gastric	stomach
46	chr12:42719400-42720800	Active TSS	Lung	lung
47	chr12:42719400-42720800	Active TSS	Pancreas	Pancrea
48	chr12:42719400-42720800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:42719400-42720800	Active TSS	Small Intestine	intestine
50	chr12:42719400-42720800	Bivalent/Poised TSS	HepG2	liver

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