Variant report

Variant	rs11689265
Chromosome Location	chr2:99799267-99799268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:99799057-99799946	MCF-7	breast:	n/a	chr2:99799534-99799542
2	CEBPB	chr2:99799190-99799928	MCF-7	breast:	n/a	chr2:99799653-99799664
3	SIN3AK20	chr2:99799208-99799892	MCF-7	breast:	n/a	n/a
4	FOXA1	chr2:99799190-99799809	HepG2	liver:	n/a	n/a
5	NR2F2	chr2:99799212-99799958	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:99799220-99799902	SK-N-MC	brain:	n/a	n/a
7	GATA3	chr2:99799215-99799951	MCF-7	breast:	n/a	chr2:99799534-99799542
8	NR2F2	chr2:99799258-99799874	MCF-7	breast:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99782491..99787778-chr2:99795073..99800536,8	MCF-7	breast:
2	chr2:99756618..99760530-chr2:99796957..99801063,7	MCF-7	breast:
3	chr2:99767297..99778137-chr2:99793643..99800044,16	MCF-7	breast:
4	chr2:99768084..99772423-chr2:99795960..99799744,7	K562	blood:
5	chr2:99767233..99772869-chr2:99793831..99799744,8	K562	blood:
6	chr2:99769587..99774574-chr2:99795787..99799597,12	MCF-7	breast:
7	chr2:99755178..99760444-chr2:99795813..99800130,7	MCF-7	breast:
8	chr2:99798090..99801072-chr2:99953190..99955353,3	K562	blood:
9	chr2:99796197..99799811-chr2:99951417..99956311,9	MCF-7	breast:
10	chr2:99796817..99802176-chr2:99802213..99807656,6	MCF-7	breast:
11	chr2:99774991..99777436-chr2:99797785..99799967,2	MCF-7	breast:
12	chr2:99797861..99801159-chr2:99814018..99816783,5	MCF-7	breast:
13	chr2:99796308..99800210-chr2:99949212..99956082,14	MCF-7	breast:
14	chr2:99797711..99799427-chr2:99990481..99993000,2	MCF-7	breast:

No data

Variant related genes	Relation type
MITD1	TF binding region
MRPL30	TF binding region
ENSG00000158417	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000144182	Chromatin interaction
ENSG00000115514	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000273155	Chromatin interaction
ENSG00000273045	Chromatin interaction
ENSG00000158411	Chromatin interaction

Extended variants
information (count: 165 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10165534	0.81[ASN][1000 genomes]
rs10179043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10181344	0.81[MKK][hapmap]
rs10190421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10196680	0.81[ASN][1000 genomes]
rs1044575	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10865029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11123761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11123762	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11123763	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123764	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123766	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123770	0.90[EUR][1000 genomes]
rs1133977	0.92[CEU][hapmap];0.93[GIH][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs1133978	0.89[EUR][1000 genomes]
rs11674894	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs11677247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11677321	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11678456	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11683107	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs11683188	0.88[CEU][hapmap];0.93[GIH][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs11684507	0.84[EUR][1000 genomes]
rs11684610	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11685759	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11688004	0.92[CEU][hapmap];0.93[GIH][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs11692336	0.89[EUR][1000 genomes]
rs11692669	0.84[EUR][1000 genomes]
rs11692699	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11693427	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11695379	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11695751	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11883676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11890338	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11895749	0.89[EUR][1000 genomes]
rs11900670	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12467679	0.81[ASN][1000 genomes]
rs12468807	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12470471	0.82[MKK][hapmap]
rs12473029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs12477754	0.81[ASN][1000 genomes]
rs12613624	0.92[CEU][hapmap];0.93[GIH][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs12619780	0.88[EUR][1000 genomes]
rs12621007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987548	0.88[EUR][1000 genomes]
rs12991189	0.85[EUR][1000 genomes]
rs12992218	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12992930	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12995473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12999417	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.88[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13000731	0.92[EUR][1000 genomes]
rs13004491	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13008171	0.92[CEU][hapmap];0.93[GIH][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs13008496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13009147	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13012481	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13018891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13020339	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13022329	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13023479	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13023501	0.87[EUR][1000 genomes]
rs13023744	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13026928	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13030961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031919	0.84[EUR][1000 genomes]
rs13033012	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs13035311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1349778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1349779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs13798	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1453561	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs1453562	0.88[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.82[YRI][hapmap]
rs1453563	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs1563108	0.89[LWK][hapmap];0.88[MKK][hapmap]
rs1580068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs17708218	0.88[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs17759607	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs17760953	0.86[CHD][hapmap]
rs1993230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs2045057	0.88[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.84[ASN][1000 genomes]
rs2171359	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2171362	0.86[EUR][1000 genomes]
rs2309524	0.88[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs2309581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516827	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]
rs2516828	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516829	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516830	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs2516832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516833	0.91[EUR][1000 genomes]
rs2516834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516835	0.92[CEU][hapmap];0.93[GIH][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs2516836	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2632260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2632261	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2632277	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2632283	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs2632284	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2964969	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2969379	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34252185	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34272114	0.89[EUR][1000 genomes]
rs34766932	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35461437	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36071868	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4324365	0.88[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.82[YRI][hapmap]
rs4340581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4347885	0.91[EUR][1000 genomes]
rs4402818	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4588238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4622780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4850897	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs4851184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4851187	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4851188	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs6542858	0.81[ASN][1000 genomes]
rs6542863	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6542864	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6542865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542866	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs6542868	0.92[CEU][hapmap];0.93[GIH][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs6542869	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542870	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6704766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs6708576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708878	0.93[EUR][1000 genomes]
rs6712704	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6717723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6717729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6726618	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6727749	0.92[CEU][hapmap];0.93[GIH][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs6733285	0.92[CEU][hapmap]
rs6736064	0.81[ASN][1000 genomes]
rs6739579	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6741772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6741773	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6743355	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6751927	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6753063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6753650	0.82[EUR][1000 genomes]
rs6756650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6757019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6757661	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6759354	0.81[ASN][1000 genomes]
rs720228	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs720229	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7349217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558004	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7572660	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7577477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7584809	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7604557	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7605843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7608938	0.93[EUR][1000 genomes]
rs8179690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896886	0.88[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs9308816	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.81[ASN][1000 genomes]
rs9710648	0.81[MKK][hapmap]
rs972768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs9808541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs9941561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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	nsv961842	chr2:99781138-99886836	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs11689265	TSGA10	cis	lung	GTEx
rs11689265	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs11689265	TSGA10	cis	Thyroid	GTEx
rs11689265	LIPT1	cis	multi-tissue	Pritchard
rs11689265	REV1L	cis	multi-tissue	Pritchard
rs11689265	LYG1	cis	cerebellum	SCAN
rs11689265	TSGA10	cis	Lymphoblastoid	GTEx
rs11689265	LIPT1	cis	cerebellum	SCAN
rs11689265	TSGA10	cis	cerebellum	SCAN
rs11689265	ANKRD36	cis	parietal	SCAN
rs11689265	ANKRD23	cis	parietal	SCAN
rs11689265	TSGA10	cis	Esophagus Mucosa	GTEx
rs11689265	LIPT1	cis	uninvolved skin	skin_eQTL
rs11689265	LIPT1	cis	parietal	SCAN
rs11689265	TSGA10	cis	multi-tissue	Pritchard
rs11689265	LIPT1	cis	normal skin	skin_eQTL
rs11689265	LIPT1	cis	lesional skin	skin_eQTL
rs11689265	CNGA3	cis	parietal	SCAN
rs11689265	TSGA10	cis	lymphoblastoid	seeQTL
rs11689265	TSGA10	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99795600-99799600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:99796400-99799400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:99796800-99799400	Active TSS	NHLF	lung
4	chr2:99798400-99799400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:99798400-99799400	Weak transcription	Gastric	stomach
6	chr2:99798400-99800000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:99798400-99803600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:99798400-99803600	Weak transcription	Left Ventricle	heart
9	chr2:99798400-99807200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:99798400-99812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:99798600-99799600	Enhancers	Primary T cells from cord blood	blood
12	chr2:99798600-99799600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:99798600-99799600	Enhancers	Colon Smooth Muscle	Colon
14	chr2:99798600-99799600	Weak transcription	Lung	lung
15	chr2:99798600-99799600	Enhancers	Ovary	ovary
16	chr2:99798600-99799800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:99798600-99799800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:99798600-99799800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:99798600-99799800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:99798600-99799800	Enhancers	Adipose Nuclei	Adipose
21	chr2:99798600-99799800	Enhancers	Brain Hippocampus Middle	brain
22	chr2:99798600-99799800	Enhancers	Fetal Lung	lung
23	chr2:99798600-99799800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:99798600-99800000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr2:99798600-99800000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:99798600-99800400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:99798600-99800400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:99798600-99800400	Enhancers	Liver	Liver
29	chr2:99798600-99800800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:99798600-99801600	Enhancers	Pancreas	Pancrea
31	chr2:99798600-99803000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:99798600-99803400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:99798600-99803400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:99798600-99803400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:99798600-99804600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:99798600-99805400	Weak transcription	Psoas Muscle	Psoas
37	chr2:99798600-99805600	Weak transcription	Brain Anterior Caudate	brain
38	chr2:99798600-99808000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:99798600-99808200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:99798600-99812000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:99798600-99812000	Weak transcription	Aorta	Aorta
42	chr2:99798600-99814000	Weak transcription	Right Ventricle	heart
43	chr2:99798600-99814800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:99798600-99815200	Weak transcription	Esophagus	oesophagus
45	chr2:99798600-99822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:99798600-99836400	Weak transcription	Small Intestine	intestine
47	chr2:99798800-99799400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:99798800-99799400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:99798800-99799400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:99798800-99799400	Enhancers	Muscle Satellite Cultured Cells	--

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