Variant report

Variant	rs2516827
Chromosome Location	chr2:99772565-99772566
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	chr2:99770271-99772617	K562	blood:	n/a	n/a
2	POLR2A	chr2:99770887-99772588	GM12878	blood:	n/a	n/a
3	MYC	chr2:99771137-99772793	A549	lung:	n/a	chr2:99771561-99771570
4	POLR2A	chr2:99770820-99772575	GM12878	blood:	n/a	n/a
5	MXI1	chr2:99770301-99772778	SK-N-SH	brain:	n/a	n/a
6	IRF1	chr2:99771142-99772630	K562	blood:	n/a	chr2:99771931-99771944 chr2:99771931-99771944 chr2:99771931-99771945 chr2:99771926-99771943 chr2:99771934-99771948 chr2:99771931-99771942 chr2:99772514-99772524 chr2:99771932-99771946 chr2:99771936-99771947 chr2:99772513-99772524 chr2:99772514-99772528 chr2:99771930-99771950 chr2:99771931-99771944 chr2:99772510-99772524
7	POLR2A	chr2:99770091-99772586	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr2:99771049-99772574	K562	blood:	n/a	n/a
9	MXI1	chr2:99770453-99772599	IMR90	lung:	n/a	n/a
10	CUX1	chr2:99771909-99772573	GM12878	blood:	n/a	n/a
11	TBL1XR1	chr2:99770755-99772603	K562	blood:	n/a	n/a
12	POLR2A	chr2:99770586-99772693	GM12891	blood:	n/a	n/a
13	POLR2A	chr2:99771101-99772619	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99754528..99760418-chr2:99769364..99773305,11	K562	blood:
2	chr2:99767297..99778137-chr2:99793643..99800044,16	MCF-7	breast:
3	chr2:99769587..99774574-chr2:99795787..99799597,12	MCF-7	breast:
4	chr2:99756639..99759461-chr2:99768691..99772730,10	MCF-7	breast:
5	chr2:99769128..99773388-chr2:99951603..99955259,4	K562	blood:
6	chr2:99767233..99772869-chr2:99793831..99799744,8	K562	blood:
7	chr2:99770250..99773199-chr2:99783967..99787710,4	MCF-7	breast:
8	chr2:99770887..99773276-chr2:99955255..99957900,2	MCF-7	breast:
9	chr2:99755030..99760884-chr2:99769021..99772906,10	K562	blood:

Variant related genes	Relation type
TSGA10	TF binding region
ENSG00000135951	Chromatin interaction
ENSG00000273045	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000241962	Chromatin interaction
ENSG00000158417	Chromatin interaction
ENSG00000115514	Chromatin interaction

Extended variants
information (count: 160 )
Associated
traits (count: 14 )

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

rs_ID	r²[population]
rs10165534	0.87[ASN][1000 genomes]
rs10179043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[ASN][1000 genomes]
rs10190421	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10196680	0.87[ASN][1000 genomes]
rs1044575	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10865029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11123761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11123762	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123763	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123764	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123766	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123770	0.83[EUR][1000 genomes]
rs1133977	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1133978	0.85[EUR][1000 genomes]
rs11674894	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs11677247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677321	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11678456	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11683107	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11683188	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs11684507	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11684610	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11685759	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11688004	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs11689265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11692336	0.85[EUR][1000 genomes]
rs11692699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11693427	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11695379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11695751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11883676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11890338	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11895749	0.85[EUR][1000 genomes]
rs11900670	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12464710	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12467679	0.87[ASN][1000 genomes]
rs12468807	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12473029	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs12477754	0.87[ASN][1000 genomes]
rs12477978	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12613624	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12619780	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12621007	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12987548	0.83[EUR][1000 genomes]
rs12992218	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992930	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12995473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999417	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13000731	0.86[EUR][1000 genomes]
rs13004491	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13008171	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs13008496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13009147	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13012481	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13018891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020339	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13022329	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13023479	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13023501	0.81[EUR][1000 genomes]
rs13023744	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13026928	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13030961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13033012	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs13035311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1349778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1349779	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1453561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs1453562	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1453563	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1580068	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17708218	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17759607	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1993230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2045057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2171359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2171362	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2309524	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2309581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2516828	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2516829	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2516830	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2516832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2516833	0.86[EUR][1000 genomes]
rs2516834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2516835	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2516836	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2632260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2632261	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2632277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2632283	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2632284	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2964969	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2969379	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34252185	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34272114	0.85[EUR][1000 genomes]
rs34766932	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35461437	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36071868	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4324365	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4340581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4347885	0.85[EUR][1000 genomes]
rs4402818	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4588238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4622780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4850897	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4851184	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4851187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851188	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs6542852	0.84[ASN][1000 genomes]
rs6542858	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6542863	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542866	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs6542868	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs6542869	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542870	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6704766	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6708576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6708878	0.86[EUR][1000 genomes]
rs6712704	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6717723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726618	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6727749	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs6733285	0.92[CEU][hapmap]
rs6736064	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6739579	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6741772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6741773	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6743355	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6751927	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6753063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6753650	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6756650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6757019	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6757661	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6759354	0.87[ASN][1000 genomes]
rs720228	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs720229	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs7349217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7558004	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7558239	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7572660	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7577477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7584809	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7604557	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7605843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7608938	0.86[EUR][1000 genomes]
rs8179690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs896886	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9308816	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs972768	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9808541	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9941561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv535839	chr2:99742621-99793747	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2516827	LIPT1	cis	uninvolved skin	skin_eQTL
rs2516827	TSGA10	cis	Thyroid	GTEx
rs2516827	TSGA10	cis	lung	GTEx
rs2516827	MITD1	Cis_1M	lymphoblastoid	RTeQTL
rs2516827	TSGA10	Cis_1M	lymphoblastoid	RTeQTL
rs2516827	TSGA10	cis	Lymphoblastoid	GTEx
rs2516827	LIPT1	cis	lesional skin	skin_eQTL
rs2516827	MITD1	cis	Nerve Tibial	GTEx
rs2516827	MITD1	cis	Esophagus Mucosa	GTEx
rs2516827	TSGA10	cis	multi-tissue	Pritchard
rs2516827	TSGA10	cis	Esophagus Mucosa	GTEx
rs2516827	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs2516827	LIPT1	Cis_1M	lymphoblastoid	RTeQTL
rs2516827	LIPT1	cis	normal skin	skin_eQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99770200-99772600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:99770400-99772600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:99770400-99772600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:99770400-99772600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:99770400-99772600	Active TSS	NHLF	lung
6	chr2:99770600-99772600	Active TSS	Fetal Muscle Trunk	muscle
7	chr2:99770600-99772600	Active TSS	HSMMtube	muscle
8	chr2:99770800-99772600	Active TSS	Fetal Intestine Large	intestine
9	chr2:99770800-99772600	Active TSS	Ovary	ovary
10	chr2:99770800-99772600	Active TSS	Right Atrium	heart
11	chr2:99770800-99772800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:99770800-99772800	Active TSS	Brain Hippocampus Middle	brain
13	chr2:99770800-99772800	Active TSS	A549	lung
14	chr2:99771000-99772600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:99771000-99772600	Active TSS	Fetal Kidney	kidney
16	chr2:99771000-99772600	Active TSS	Thymus	Thymus
17	chr2:99771000-99772800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:99771000-99772800	Active TSS	Stomach Smooth Muscle	stomach
19	chr2:99771200-99772800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:99771800-99772600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr2:99771800-99772800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr2:99772000-99772600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:99772000-99772600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr2:99772000-99772600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr2:99772000-99772600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:99772000-99772600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr2:99772000-99772600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr2:99772000-99772600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:99772000-99772600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:99772000-99772600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr2:99772000-99772600	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr2:99772000-99772600	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr2:99772000-99772600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr2:99772000-99772600	Flanking Active TSS	Fetal Brain Male	brain
35	chr2:99772000-99772600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:99772000-99772600	Flanking Active TSS	Hela-S3	cervix
37	chr2:99772000-99772600	Flanking Active TSS	HUVEC	blood vessel
38	chr2:99772000-99772800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:99772000-99772800	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr2:99772000-99772800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr2:99772000-99772800	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr2:99772200-99772600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr2:99772200-99772600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:99772200-99772600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:99772200-99772600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:99772200-99772600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr2:99772200-99772600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:99772200-99772600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr2:99772200-99772600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr2:99772200-99772600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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