Variant report

Variant	rs8179690
Chromosome Location	chr2:99795300-99795301
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:99795253-99795382	K562	blood:	n/a	n/a
2	CTCF	chr2:99795269-99796148	A549	lung:	n/a	n/a
3	CTCF	chr2:99795300-99795450	HFF-Myc	foreskin:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99782491..99787778-chr2:99795073..99800536,8	MCF-7	breast:
2	chr2:99767297..99778137-chr2:99793643..99800044,16	MCF-7	breast:
3	chr2:99785439..99787050-chr2:99795016..99797039,2	MCF-7	breast:
4	chr2:99767233..99772869-chr2:99793831..99799744,8	K562	blood:
5	chr2:99792102..99795354-chr2:99796757..99799088,4	MCF-7	breast:
6	chr2:99785228..99787870-chr2:99793605..99795675,2	K562	blood:

No data

Variant related genes	Relation type
C2orf15	TF binding region
MITD1	TF binding region
MRPL30	TF binding region
ENSG00000241962	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000273155	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000144182	Chromatin interaction
ENSG00000158411	Chromatin interaction

Extended variants
information (count: 158 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10165534	0.82[ASN][1000 genomes]
rs10179043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs10190421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10196680	0.82[ASN][1000 genomes]
rs1044575	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11123761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11123762	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11123763	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123764	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123766	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123770	0.84[EUR][1000 genomes]
rs1133977	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs1133978	0.84[EUR][1000 genomes]
rs11674894	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs11677247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11677321	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678456	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11683107	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs11683188	0.88[CEU][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs11684507	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11684610	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11685759	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11688004	0.92[CEU][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs11689265	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]
rs11692336	0.84[EUR][1000 genomes]
rs11692699	0.88[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];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11693427	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11695379	0.88[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];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11695751	0.83[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];0.93[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11883676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890338	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11895749	0.84[EUR][1000 genomes]
rs11900670	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12467679	0.82[ASN][1000 genomes]
rs12468807	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12473029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[ASN][1000 genomes]
rs12477754	0.82[ASN][1000 genomes]
rs12613624	0.92[CEU][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs12619780	0.83[EUR][1000 genomes]
rs12621007	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12987548	0.82[EUR][1000 genomes]
rs12992218	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12992930	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12995473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12999417	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13000731	0.87[EUR][1000 genomes]
rs13004491	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13008171	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs13008496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13009147	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13012481	0.86[EUR][1000 genomes]
rs13018891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13020339	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13022329	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13023479	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13023501	0.82[EUR][1000 genomes]
rs13023744	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13026928	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13030961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13033012	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs13035311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1349778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[ASN][1000 genomes]
rs1349779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[ASN][1000 genomes]
rs13798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453561	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1453562	0.88[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap]
rs1453563	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1580068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs17708218	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs17759607	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs17760953	0.93[CHD][hapmap]
rs1993230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs2045057	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs2171359	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171362	0.89[EUR][1000 genomes]
rs2309524	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs2309581	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516827	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]
rs2516828	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516829	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516830	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2516832	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]
rs2516833	0.85[EUR][1000 genomes]
rs2516834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516835	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs2516836	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2632260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2632261	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2632277	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2632283	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2632284	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964969	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2969379	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34252185	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34272114	0.83[EUR][1000 genomes]
rs34766932	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35461437	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36071868	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4324365	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap]
rs4340581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4347885	0.85[EUR][1000 genomes]
rs4402818	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4588238	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4622780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4850897	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs4851184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4851187	0.83[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];0.96[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4851188	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs6542858	0.82[ASN][1000 genomes]
rs6542863	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6542864	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6542865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542866	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs6542868	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs6542869	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542870	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs6708576	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];0.83[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708878	0.87[EUR][1000 genomes]
rs6712704	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6717723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6717729	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6726618	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6727749	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs6733285	0.92[CEU][hapmap]
rs6736064	0.82[ASN][1000 genomes]
rs6739579	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6741772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6741773	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6743355	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6751927	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6753063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753650	0.87[EUR][1000 genomes]
rs6756650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6757661	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759354	0.82[ASN][1000 genomes]
rs720228	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs720229	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7349217	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];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558004	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7572660	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7584809	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7604557	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608938	0.87[EUR][1000 genomes]
rs896886	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs9308816	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs972768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs9808541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs9941561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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:22)

SNP	Gene	Cis/trans	Tissue	Source
rs8179690	TSGA10	cis	Esophagus Mucosa	GTEx
rs8179690	LIPT1	cis	normal skin	skin_eQTL
rs8179690	TSGA10	cis	parietal	SCAN
rs8179690	REV1L	cis	multi-tissue	Pritchard
rs8179690	LIPT1	cis	multi-tissue	Pritchard
rs8179690	MITD1	cis	Nerve Tibial	GTEx
rs8179690	TSGA10	cis	multi-tissue	Pritchard
rs8179690	LIPT1	cis	lesional skin	skin_eQTL
rs8179690	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs8179690	LIPT1	cis	parietal	SCAN
rs8179690	MITD1	cis	Esophagus Mucosa	GTEx
rs8179690	LIPT1	cis	uninvolved skin	skin_eQTL
rs8179690	LIPT1	cis	cerebellum	SCAN
rs8179690	TSGA10	cis	Lymphoblastoid	GTEx
rs8179690	TSGA10	cis	cerebellum	SCAN
rs8179690	LYG1	cis	cerebellum	SCAN
rs8179690	TSGA10	cis	lymphoblastoid	seeQTL
rs8179690	TSGA10	cis	lung	GTEx
rs8179690	TSGA10	cis	Thyroid	GTEx
rs8179690	ANKRD36	cis	parietal	SCAN
rs8179690	CNGA3	cis	parietal	SCAN
rs8179690	ANKRD23	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99772200-99795600	Weak transcription	Gastric	stomach
2	chr2:99772400-99795600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:99772400-99795600	Weak transcription	Small Intestine	intestine
4	chr2:99772400-99796400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:99772400-99796600	Weak transcription	Right Ventricle	heart
6	chr2:99772400-99796800	Weak transcription	Colonic Mucosa	Colon
7	chr2:99772400-99797000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:99772600-99795800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:99772600-99796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:99772600-99796600	Weak transcription	Fetal Kidney	kidney
11	chr2:99772600-99797000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:99772800-99796400	Weak transcription	Fetal Heart	heart
13	chr2:99773000-99796400	Weak transcription	Fetal Brain Male	brain
14	chr2:99774000-99796200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:99774600-99795400	Weak transcription	K562	blood
16	chr2:99775000-99795600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:99775400-99795400	Weak transcription	Brain Substantia Nigra	brain
18	chr2:99776400-99795600	Weak transcription	Fetal Lung	lung
19	chr2:99779400-99795600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:99783000-99795600	Weak transcription	Stomach Mucosa	stomach
21	chr2:99784600-99795600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:99784600-99797000	Weak transcription	Ovary	ovary
23	chr2:99784800-99795600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:99785200-99795600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:99785200-99795600	Weak transcription	Pancreas	Pancrea
26	chr2:99785200-99796000	Weak transcription	Spleen	Spleen
27	chr2:99785200-99796400	Weak transcription	NHEK	skin
28	chr2:99785200-99796600	Weak transcription	HSMMtube	muscle
29	chr2:99785200-99797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:99785800-99795600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:99786000-99796000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:99786400-99795400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:99786400-99795600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:99786600-99795400	Weak transcription	Thymus	Thymus
35	chr2:99786600-99795600	Weak transcription	A549	lung
36	chr2:99786600-99796600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:99786600-99797000	Weak transcription	Aorta	Aorta
38	chr2:99786600-99797000	Weak transcription	Esophagus	oesophagus
39	chr2:99786600-99797000	Weak transcription	Lung	lung
40	chr2:99787600-99795600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:99787600-99796400	Weak transcription	HMEC	breast
42	chr2:99787600-99797000	Weak transcription	Psoas Muscle	Psoas
43	chr2:99787800-99795600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:99787800-99795600	Weak transcription	Fetal Brain Female	brain
45	chr2:99787800-99795600	Weak transcription	NH-A	brain
46	chr2:99787800-99796400	Weak transcription	NHLF	lung
47	chr2:99787800-99796600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:99788200-99795600	Weak transcription	Osteobl	bone
49	chr2:99788600-99795400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:99788600-99795400	Weak transcription	Colon Smooth Muscle	Colon

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