Variant report

Variant	rs10865029
Chromosome Location	chr2:99718298-99718299
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	CTCF	chr2:99718160-99718310	RPTEC	kidney:	n/a	n/a
2	RAD21	chr2:99718203-99718509	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr2:99718175-99718456	K562	blood:	n/a	n/a
4	CTCF	chr2:99718280-99718430	AG04450	lung:	n/a	n/a
5	CTCF	chr2:99718280-99718430	HPF	lung:	n/a	n/a
6	CTCF	chr2:99718240-99718390	Caco-2	colon:	n/a	n/a
7	CTCF	chr2:99718200-99718350	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr2:99718288-99718400	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr2:99718243-99718466	HepG2	liver:	n/a	chr2:99718391-99718402
10	CTCF	chr2:99718240-99718390	HPF	lung:	n/a	n/a
11	CEBPB	chr2:99718224-99718502	A549	lung:	n/a	chr2:99718391-99718402
12	CEBPB	chr2:99718201-99718576	K562	blood:	n/a	chr2:99718391-99718402
13	CTCF	chr2:99718280-99718430	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr2:99718280-99718430	NB4	blood:	n/a	n/a
15	CTCF	chr2:99718280-99718430	HMF	breast:	n/a	n/a
16	CEBPB	chr2:99718227-99718522	IMR90	lung:	n/a	chr2:99718391-99718402
17	CTCF	chr2:99718260-99718410	HepG2	liver:	n/a	n/a
18	CTCF	chr2:99718220-99718370	AG04449	skin:	n/a	n/a
19	CEBPB	chr2:99718222-99718527	HepG2	liver:	n/a	chr2:99718391-99718402
20	CTCF	chr2:99718240-99718390	BJ	skin:	n/a	n/a
21	CTCF	chr2:99718280-99718430	HCFaa	heart:	n/a	n/a
22	CTCF	chr2:99718240-99718390	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr2:99718280-99718430	HVMF	connective:	n/a	n/a
24	CTCF	chr2:99718260-99718410	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr2:99718280-99718430	AoAF	blood vessel:	n/a	n/a
26	CEBPB	chr2:99718218-99718544	Hela-S3	cervix:	n/a	chr2:99718391-99718402
27	RAD21	chr2:99718207-99718484	HepG2	liver:	n/a	n/a
28	CTCF	chr2:99718280-99718430	HFF	foreskin:	n/a	n/a
29	CEBPB	chr2:99718199-99718513	H1-hESC	embryonic stem cell:	n/a	chr2:99718391-99718402
30	CEBPB	chr2:99718198-99718536	K562	blood:	n/a	chr2:99718391-99718402
31	CEBPB	chr2:99718206-99718582	HepG2	liver:	n/a	chr2:99718391-99718402
32	CTCF	chr2:99718260-99718410	AG09319	gingival:	n/a	n/a
33	CTCF	chr2:99718280-99718430	NHLF	lung:	n/a	n/a
34	IRF1	chr2:99718193-99718482	K562	blood:	n/a	n/a
35	CTCF	chr2:99718240-99718390	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr2:99718260-99718410	AG10803	skin:	n/a	n/a
37	CTCF	chr2:99718280-99718430	Caco-2	colon:	n/a	n/a
38	CTCF	chr2:99718280-99718430	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr2:99718240-99718390	HMF	breast:	n/a	n/a
40	CTCF	chr2:99718240-99718390	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000231822	TF binding region

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

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10165534	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10179043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[ASN][1000 genomes]
rs10190421	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10193019	0.85[ASN][1000 genomes]
rs10196680	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1044575	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[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123763	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11123764	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11123765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123766	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11123770	0.81[EUR][1000 genomes]
rs1133977	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1133978	0.87[EUR][1000 genomes]
rs11674894	0.88[CEU][hapmap]
rs11677247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11677321	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11678456	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683107	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs11683188	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs11684507	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11684610	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11685759	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11688004	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs11689265	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]
rs11692336	0.87[EUR][1000 genomes]
rs11692669	0.80[EUR][1000 genomes]
rs11692699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11693427	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11695379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11695751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11883676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11890338	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11895749	0.87[EUR][1000 genomes]
rs11900670	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464710	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12467679	0.97[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];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12477754	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12477978	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12613624	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs12619780	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12621007	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12987548	0.86[EUR][1000 genomes]
rs12992218	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12992930	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[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];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12999417	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs13000731	0.83[EUR][1000 genomes]
rs13004491	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13008171	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs13008496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13009147	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13012481	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13018891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13020339	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13022329	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13023479	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13023744	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13026928	0.86[EUR][1000 genomes]
rs13030961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13033012	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs13035311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1349779	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[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];0.87[EUR][1000 genomes]
rs1580068	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17708218	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17759607	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1993230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2045057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2171359	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]
rs2171362	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2309524	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2309581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2516827	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]
rs2516828	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2516829	0.92[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]
rs2516830	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs2516832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2516833	0.84[EUR][1000 genomes]
rs2516834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2516835	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2516836	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2632260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2632261	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2632277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2632283	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2632284	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2964969	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2969379	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34252185	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34272114	0.87[EUR][1000 genomes]
rs34766932	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35461437	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36071868	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4347885	0.82[EUR][1000 genomes]
rs4402818	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4622780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4850897	0.92[CEU][hapmap];0.84[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];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4851188	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs6542852	0.93[ASN][1000 genomes]
rs6542858	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6542863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6542866	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs6542868	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs6542869	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6542870	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6704766	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6708576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6708878	0.84[EUR][1000 genomes]
rs6712704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[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];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6726618	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6727749	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs6733285	0.92[CEU][hapmap]
rs6736064	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6739579	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6743355	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6753063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6753650	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6756650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6757019	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6757661	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6759354	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs720228	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720229	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7349217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7558004	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7558239	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7572660	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7577477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7584809	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7604557	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7605843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7608938	0.84[EUR][1000 genomes]
rs8179690	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]
rs896886	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9308816	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs972768	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9808541	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9941561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs10865029	TSGA10	cis	Esophagus Mucosa	GTEx
rs10865029	TSGA10	Cis_1M	lymphoblastoid	RTeQTL
rs10865029	TSGA10	cis	Thyroid	GTEx
rs10865029	LIPT1	cis	normal skin	skin_eQTL
rs10865029	TSGA10	cis	lung	GTEx
rs10865029	LIPT1	cis	lesional skin	skin_eQTL
rs10865029	TSGA10	cis	Lymphoblastoid	GTEx
rs10865029	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs10865029	MITD1	cis	Esophagus Mucosa	GTEx
rs10865029	LIPT1	cis	uninvolved skin	skin_eQTL
rs10865029	LIPT1	Cis_1M	lymphoblastoid	RTeQTL
rs10865029	TSGA10	cis	multi-tissue	Pritchard
rs10865029	MITD1	cis	Nerve Tibial	GTEx
rs10865029	MITD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99717800-99718400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:99717800-99718400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:99717800-99718400	Active TSS	Brain Hippocampus Middle	brain
4	chr2:99717800-99718400	Enhancers	Dnd41	blood
5	chr2:99717800-99718600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:99718000-99718400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:99718000-99718400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr2:99718000-99718400	Active TSS	Brain Angular Gyrus	brain
9	chr2:99718000-99718400	Active TSS	Brain Substantia Nigra	brain
10	chr2:99718000-99718600	Active TSS	Brain Anterior Caudate	brain
11	chr2:99718000-99718600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr2:99718000-99740200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:99718200-99718400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:99718200-99718400	Enhancers	Ovary	ovary
15	chr2:99718200-99718400	Enhancers	K562	blood
16	chr2:99718200-99718400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:99718200-99718600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:99718200-99718600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:99718200-99718600	Active TSS	Liver	Liver
20	chr2:99718200-99729400	Weak transcription	Brain Cingulate Gyrus	brain

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