Variant report

Variant	rs6772896
Chromosome Location	chr3:134203347-134203348
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	POLR2A	chr3:134203312-134203512	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:134203331-134205514	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr3:134203190-134205992	K562	blood:	n/a	n/a
4	POLR2A	chr3:134201396-134207240	IMR90	lung:	n/a	n/a
5	POLR2A	chr3:134203306-134203371	ProgFib	skin:	n/a	n/a
6	MXI1	chr3:134203237-134206665	SK-N-SH	brain:	n/a	chr3:134205393-134205402
7	POLR2A	chr3:134202879-134206006	K562	blood:	n/a	n/a
8	POLR2A	chr3:134203316-134206681	GM18505	blood:	n/a	n/a
9	CTCF	chr3:134203140-134203410	K562	blood:	n/a	n/a
10	POLR2A	chr3:134203163-134205483	K562	blood:	n/a	n/a
11	POLR2A	chr3:134203305-134205912	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:134203258-134205960	K562	blood:	n/a	n/a
13	POLR2A	chr3:134203277-134205967	GM12878	blood:	n/a	n/a
14	ZNF263	chr3:134203282-134204015	HEK293-T-REx	kidney:	n/a	chr3:134203536-134203557
15	POLR2A	chr3:134203252-134206990	GM12891	blood:	n/a	n/a
16	SREBP1	chr3:134203157-134205389	GM12878	blood:	n/a	chr3:134204852-134204862 chr3:134204853-134204862
17	CHD1	chr3:134203084-134207232	IMR90	lung:	n/a	chr3:134206506-134206516
18	MYC	chr3:134203073-134205623	K562	blood:	n/a	chr3:134204836-134204846 chr3:134204853-134204862 chr3:134204852-134204863
19	ZNF384	chr3:134203141-134203355	K562	blood:	n/a	n/a
20	POLR2A	chr3:134203309-134207157	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:134066447..134072766-chr3:134202428..134206376,9	MCF-7	breast:
2	chr3:134107138..134109497-chr3:134202538..134204336,2	MCF-7	breast:
3	chr3:133969506..133971460-chr3:134202147..134204798,2	K562	blood:
4	chr3:134027625..134034860-chr3:134199305..134206618,11	MCF-7	breast:
5	chr3:134081380..134086335-chr3:134201546..134208103,7	MCF-7	breast:
6	chr3:134089711..134094738-chr3:134202793..134208651,12	MCF-7	breast:
7	chr3:134068339..134071562-chr3:134203031..134205941,6	MCF-7	breast:
8	chr3:134091805..134100491-chr3:134198620..134206897,15	MCF-7	breast:
9	chr3:134072948..134076764-chr3:134201781..134206077,4	MCF-7	breast:

Variant related genes	Relation type
CEP63	TF binding region
ANAPC13	TF binding region
ENSG00000214289	Chromatin interaction
ENSG00000240006	Chromatin interaction
ENSG00000163785	Chromatin interaction
ENSG00000114019	Chromatin interaction
ENSG00000260633	Chromatin interaction

Extended variants
information (count: 224 )
Associated
traits (count: 35 )

rSNPs within LD-proxies of this variant (count:217)

rs_ID	r²[population]
rs10804632	0.83[ASN][1000 genomes]
rs10935113	0.90[EUR][1000 genomes]
rs10935120	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1138273	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11706117	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11708531	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11915964	0.91[CEU][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap]
rs11919350	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11919458	0.84[ASN][1000 genomes]
rs11927068	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11928499	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12490835	0.95[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12492930	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12637301	0.87[CEU][hapmap]
rs12637751	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13059720	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13064209	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs13065405	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13065773	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13071253	0.82[MEX][hapmap]
rs13075117	0.83[CEU][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap]
rs13075253	0.84[CEU][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap]
rs13076825	0.83[CEU][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap]
rs13079012	0.82[MEX][hapmap]
rs13081177	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13081688	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13084192	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs13087875	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13088413	0.80[ASN][1000 genomes]
rs13089566	0.91[CEU][hapmap]
rs13089966	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13096604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13098546	0.84[CEU][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap]
rs13316205	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1357762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1357764	0.91[CEU][hapmap];0.81[JPT][hapmap]
rs1498718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1534025	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.80[ASN][1000 genomes]
rs1534026	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1534027	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1534028	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1534030	0.83[CEU][hapmap]
rs17694011	0.95[CEU][hapmap];0.92[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1814336	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1814337	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1863911	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1863912	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1863913	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1874883	0.88[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880375	0.87[CEU][hapmap]
rs1880376	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1880377	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1917130	0.95[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2056603	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs2177601	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2177602	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2241556	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs2293293	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs2293294	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs2370578	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2370641	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2370642	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2373865	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28409322	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28702610	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2887797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2888670	0.87[CEU][hapmap]
rs34029813	0.86[EUR][1000 genomes]
rs35718987	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35933983	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36006513	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3846055	0.83[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846056	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3856729	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3932818	0.96[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4074521	0.88[CEU][hapmap];0.81[JPT][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap]
rs4074522	0.88[ASW][hapmap];0.88[CEU][hapmap];0.81[JPT][hapmap];0.98[LWK][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs4245903	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs4245905	0.83[CEU][hapmap]
rs4245907	0.91[CEU][hapmap]
rs4306899	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs4309773	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4367113	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4417907	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4435682	0.91[CEU][hapmap];0.81[JPT][hapmap]
rs4437193	0.80[CEU][hapmap]
rs4498009	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4539979	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4543053	0.80[CEU][hapmap]
rs4572812	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4634170	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs4955525	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs4955526	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs4955534	0.87[CEU][hapmap]
rs4955542	0.87[CEU][hapmap]
rs4955546	0.82[CEU][hapmap]
rs4955547	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs4955548	0.81[JPT][hapmap]
rs4955555	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4974478	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4974480	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4974481	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4974483	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4974484	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4974493	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55913793	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56899746	0.84[ASN][1000 genomes]
rs62269547	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62269560	0.80[ASN][1000 genomes]
rs6439484	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6439487	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6439492	0.85[EUR][1000 genomes]
rs6763088	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6763093	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6763188	0.91[CEU][hapmap]
rs6764764	0.84[CEU][hapmap];0.92[YRI][hapmap]
rs6765505	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6766818	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6766897	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6768323	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6769885	0.95[CEU][hapmap];0.93[CHB][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6772406	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6775611	0.91[CEU][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap]
rs6776203	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6779326	0.84[CEU][hapmap]
rs6782128	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6785027	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6787371	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6790338	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6790466	0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6799110	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6799543	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6800862	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6801596	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6802654	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6804770	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6805388	1.00[CEU][hapmap];0.81[YRI][hapmap];0.89[EUR][1000 genomes]
rs6806417	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6806810	0.88[CEU][hapmap]
rs7356093	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7371896	1.00[CEU][hapmap];0.93[CHB][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7372770	0.88[EUR][1000 genomes]
rs7373874	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7374158	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7374325	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7427492	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7428326	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7429866	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7430034	0.83[CEU][hapmap]
rs7432268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7433663	0.92[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7611828	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7619451	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];0.84[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7623567	0.91[CEU][hapmap]
rs7626557	0.91[CEU][hapmap]
rs7627654	0.86[EUR][1000 genomes]
rs7627726	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7630874	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7637227	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7648990	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7649910	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7653807	0.91[CEU][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap]
rs9289471	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9289475	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9289476	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9289478	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs934093	0.82[ASW][hapmap];0.91[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9809344	0.80[CEU][hapmap]
rs9809619	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9813774	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9814567	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9815297	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9815894	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9815983	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9819532	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9820150	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9820425	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9824185	0.88[CEU][hapmap]
rs9826496	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9827672	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9827987	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9828815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9829092	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9832785	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9833753	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9834755	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9835204	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9836401	0.84[CEU][hapmap]
rs9838119	0.84[CEU][hapmap]
rs9838467	0.84[CEU][hapmap]
rs9838834	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9841180	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9841212	1.00[CEU][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs9841371	0.91[CEU][hapmap]
rs9844537	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9847788	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs9848254	0.84[CEU][hapmap]
rs9850015	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9851441	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs9854299	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9855013	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9857242	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs9857995	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs9863786	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9864346	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs9869981	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9870262	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9871226	0.83[CEU][hapmap]
rs9871305	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9876658	1.00[CEU][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs9883753	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9884031	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9968172	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9985341	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9985356	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9989967	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9990351	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv33705	chr3:134201034-134210747	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:35)

SNP	Gene	Cis/trans	Tissue	Source
rs6772896	CEP63	cis	parietal	SCAN
rs6772896	ANAPC13	cis	Esophagus Muscularis	GTEx
rs6772896	ANAPC13	cis	uninvolved skin	skin_eQTL
rs6772896	ANAPC13	cis	Nerve Tibial	GTEx
rs6772896	KY	cis	cerebellum	SCAN
rs6772896	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx
rs6772896	ANAPC13	cis	cerebellum	SCAN
rs6772896	CEP63	cis	Artery Tibial	GTEx
rs6772896	ANAPC13	cis	Artery Tibial	GTEx
rs6772896	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs6772896	ANAPC13	cis	lymphoblastoid	seeQTL
rs6772896	ANAPC13	cis	Heart Left Ventricle	GTEx
rs6772896	CEP63	cis	Whole Blood	GTEx
rs6772896	CEP63	cis	Nerve Tibial	GTEx
rs6772896	ANAPC13	cis	parietal	SCAN
rs6772896	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs6772896	ANAPC13	cis	Muscle Skeletal	GTEx
rs6772896	ANAPC13	cis	normal skin	skin_eQTL
rs6772896	ANAPC13	cis	lung	GTEx
rs6772896	ANAPC13	cis	Artery Aorta	GTEx
rs6772896	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs6772896	ANAPC13	cis	lesional skin	skin_eQTL
rs6772896	CEP63	cis	Esophagus Mucosa	GTEx
rs6772896	CEP63	cis	Muscle Skeletal	GTEx
rs6772896	CEP63	cis	lesional skin	skin_eQTL
rs6772896	CEP63	cis	Esophagus Muscularis	GTEx
rs6772896	ANAPC13	cis	Whole Blood	GTEx
rs6772896	ANAPC13	cis	Stomach	GTEx
rs6772896	TXNDC6	cis	cerebellum	SCAN
rs6772896	EPHB1	cis	cerebellum	SCAN
rs6772896	CEP63	cis	Skin Sun Exposed Lower leg	GTEx
rs6772896	CEP63	cis	lung	GTEx
rs6772896	ANAPC13	cis	Esophagus Mucosa	GTEx
rs6772896	ANAPC13	cis	multi-tissue	Pritchard
rs6772896	ANAPC13	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134183800-134203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:134190800-134203600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:134193000-134203400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:134200000-134203400	Weak transcription	Right Atrium	heart
5	chr3:134200000-134203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:134200200-134203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:134200400-134203400	Weak transcription	Esophagus	oesophagus
8	chr3:134200600-134203400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:134201200-134203600	Enhancers	Aorta	Aorta
10	chr3:134201400-134203400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:134201400-134203400	Weak transcription	Colonic Mucosa	Colon
12	chr3:134201400-134204400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:134201600-134203400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:134201600-134203400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr3:134201600-134203400	Enhancers	Adipose Nuclei	Adipose
16	chr3:134201600-134203600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr3:134201800-134203400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:134201800-134203400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:134201800-134203400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:134201800-134203400	Enhancers	Colon Smooth Muscle	Colon
21	chr3:134201800-134203400	Weak transcription	Ovary	ovary
22	chr3:134201800-134203400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr3:134201800-134203400	Enhancers	HSMMtube	muscle
24	chr3:134201800-134203600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:134201800-134203800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:134201800-134204400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:134201800-134204400	Flanking Active TSS	HUVEC	blood vessel
28	chr3:134202000-134203400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:134202000-134203400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr3:134202000-134203600	Enhancers	Primary B cells from peripheral blood	blood
31	chr3:134202000-134203600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr3:134202000-134203600	Enhancers	Fetal Heart	heart
33	chr3:134202000-134204000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:134202000-134204200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:134202200-134203400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:134202200-134203400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:134202200-134203400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:134202200-134203400	Enhancers	Pancreas	Pancrea
39	chr3:134202200-134203400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr3:134202200-134203600	Enhancers	Left Ventricle	heart
41	chr3:134202200-134203600	Enhancers	Placenta Amnion	Placenta Amnion
42	chr3:134202200-134203800	Enhancers	Spleen	Spleen
43	chr3:134202200-134204200	Flanking Active TSS	NHEK	skin
44	chr3:134202400-134203400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr3:134202400-134203400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr3:134202400-134203400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:134202400-134203400	Enhancers	Fetal Intestine Small	intestine
48	chr3:134202400-134203400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:134202600-134203400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:134202600-134203400	Enhancers	Primary neutrophils fromperipheralblood	blood

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