Variant report

Variant	rs13030961
Chromosome Location	chr2:99799520-99799521
allele	C/G
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	chr2:99799306-99799935	HepG2	liver:	n/a	n/a
2	HDAC2	chr2:99799451-99799775	HepG2	liver:	n/a	n/a
3	FOXA1	chr2:99799412-99799781	T-47D	breast:	n/a	n/a
4	FOXA1	chr2:99799328-99799843	HepG2	liver:	n/a	n/a
5	MAX	chr2:99799272-99799801	MCF-7	breast:	n/a	n/a
6	CHD2	chr2:99799516-99799695	HepG2	liver:	n/a	n/a
7	GATA3	chr2:99799057-99799946	MCF-7	breast:	n/a	chr2:99799534-99799542
8	CEBPB	chr2:99799334-99799838	MCF-7	breast:	n/a	chr2:99799653-99799664
9	CEBPB	chr2:99799190-99799928	MCF-7	breast:	n/a	chr2:99799653-99799664
10	SIN3AK20	chr2:99799208-99799892	MCF-7	breast:	n/a	n/a
11	CEBPB	chr2:99799512-99799803	IMR90	lung:	n/a	chr2:99799653-99799664
12	CEBPB	chr2:99799441-99799769	K562	blood:	n/a	chr2:99799653-99799664
13	GATA3	chr2:99799317-99799666	MCF-7	breast:	n/a	chr2:99799534-99799542
14	MYBL2	chr2:99799330-99799916	HepG2	liver:	n/a	n/a
15	FOXA1	chr2:99799190-99799809	HepG2	liver:	n/a	n/a
16	FOXA1	chr2:99799359-99799767	T-47D	breast:	n/a	n/a
17	FOXA2	chr2:99799313-99799783	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:99799383-99799904	HepG2	liver:	n/a	chr2:99799653-99799664
19	CEBPB	chr2:99799466-99799844	K562	blood:	n/a	chr2:99799653-99799664
20	CEBPB	chr2:99799513-99799776	K562	blood:	n/a	chr2:99799653-99799664
21	ZNF217	chr2:99799314-99799784	MCF-7	breast:	n/a	n/a
22	MAX	chr2:99799284-99799853	MCF-7	breast:	n/a	n/a
23	POLR2A	chr2:99799418-99799847	MCF-7	breast:	n/a	n/a
24	CEBPB	chr2:99799462-99799789	ECC-1	luminal epithelium:	n/a	chr2:99799653-99799664
25	NR2F2	chr2:99799212-99799958	MCF-7	breast:	n/a	n/a
26	POLR2A	chr2:99799220-99799902	SK-N-MC	brain:	n/a	n/a
27	CEBPB	chr2:99799469-99799811	H1-hESC	embryonic stem cell:	n/a	chr2:99799653-99799664
28	HEY1	chr2:99799510-99799694	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:99799487-99799805	Hela-S3	cervix:	n/a	chr2:99799653-99799664
30	ARID3A	chr2:99799367-99799751	HepG2	liver:	n/a	n/a
31	GATA3	chr2:99799379-99799710	T-47D	breast:	n/a	chr2:99799534-99799542
32	GATA3	chr2:99799367-99799651	MCF-7	breast:	n/a	chr2:99799534-99799542
33	GATA3	chr2:99799215-99799951	MCF-7	breast:	n/a	chr2:99799534-99799542
34	HDAC2	chr2:99799279-99799820	MCF-7	breast:	n/a	n/a
35	TCF7L2	chr2:99799453-99799743	MCF-7	breast:	n/a	n/a
36	CEBPD	chr2:99799407-99799774	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:99799464-99799843	HepG2	liver:	n/a	chr2:99799653-99799664
38	FOXA1	chr2:99799291-99799815	HepG2	liver:	n/a	n/a
39	NR2F2	chr2:99799258-99799874	MCF-7	breast:	n/a	n/a
40	EP300	chr2:99799329-99799857	HepG2	liver:	n/a	n/a
41	CEBPB	chr2:99799464-99799842	HepG2	liver:	n/a	chr2:99799653-99799664
42	FOXA1	chr2:99799424-99799752	HepG2	liver:	n/a	n/a

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:

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

Extended variants
information (count: 160 )
Associated
traits (count: 12 )

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

rs_ID	r²[population]
rs10165534	0.81[ASN][1000 genomes]
rs10179043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[ASN][1000 genomes]
rs10190421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs10196680	0.81[ASN][1000 genomes]
rs1044575	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10865029	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]
rs11123761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[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];0.90[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];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123766	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123770	0.89[EUR][1000 genomes]
rs1133977	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs1133978	0.89[EUR][1000 genomes]
rs11674894	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs11677247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11677321	0.87[AMR][1000 genomes];0.88[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];0.90[EUR][1000 genomes]
rs11683188	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs11684507	0.84[EUR][1000 genomes]
rs11684610	0.81[AMR][1000 genomes];0.81[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];0.88[EUR][1000 genomes]
rs11689265	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]
rs11692336	0.89[EUR][1000 genomes]
rs11692669	0.83[EUR][1000 genomes]
rs11692699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11693427	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11695379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11695751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11883676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11890338	0.85[AMR][1000 genomes];0.92[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]
rs12473029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs12477754	0.81[ASN][1000 genomes]
rs12613624	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs12619780	0.88[EUR][1000 genomes]
rs12621007	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987548	0.87[EUR][1000 genomes]
rs12991189	0.85[EUR][1000 genomes]
rs12992218	0.84[AMR][1000 genomes];0.92[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];0.88[JPT][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];0.89[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];0.91[EUR][1000 genomes]
rs13018891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13020339	0.82[AMR][1000 genomes];0.85[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];0.80[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	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13031919	0.83[EUR][1000 genomes]
rs13033012	0.92[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];0.89[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];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs13798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1453561	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453562	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453563	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1580068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs17708218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17759607	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1993230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[ASN][1000 genomes]
rs2045057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2171359	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]
rs2171362	0.85[EUR][1000 genomes]
rs2309524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2309581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][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];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.92[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];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516830	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs2516832	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]
rs2516833	0.90[EUR][1000 genomes]
rs2516834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516835	0.92[CEU][hapmap];0.91[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];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.98[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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2632283	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs2632284	0.95[AMR][1000 genomes];0.96[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	0.95[AMR][1000 genomes];0.98[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	0.88[EUR][1000 genomes]
rs34766932	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35461437	0.81[AMR][1000 genomes];0.84[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	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4340581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[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];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4588238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4622780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4850897	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs4851184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs4851187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4851188	0.92[CEU][hapmap];0.88[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];1.00[JPT][hapmap];0.82[YRI][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];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542866	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs6542868	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs6542869	0.86[AMR][1000 genomes];0.93[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];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs6708576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708878	0.92[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];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6717729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6726618	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6727749	0.92[CEU][hapmap];0.92[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];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6753063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][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];0.84[YRI][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];0.80[YRI][hapmap]
rs6757661	0.99[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	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs720229	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7349217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558004	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558239	1.00[CHB][hapmap];1.00[JPT][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];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7584809	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7604557	0.92[AMR][1000 genomes];0.96[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];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7608938	0.92[EUR][1000 genomes]
rs8179690	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]
rs896886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9308816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs972768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[ASN][1000 genomes]
rs9808541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs13030961	LIPT1	cis	lesional skin	skin_eQTL
rs13030961	TSGA10	Cis_1M	lymphoblastoid	RTeQTL
rs13030961	MITD1	Cis_1M	lymphoblastoid	RTeQTL
rs13030961	TSGA10	cis	lung	GTEx
rs13030961	TSGA10	cis	Thyroid	GTEx
rs13030961	TSGA10	cis	Esophagus Mucosa	GTEx
rs13030961	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs13030961	TSGA10	cis	multi-tissue	Pritchard
rs13030961	LIPT1	cis	uninvolved skin	skin_eQTL
rs13030961	LIPT1	Cis_1M	lymphoblastoid	RTeQTL
rs13030961	TSGA10	cis	Lymphoblastoid	GTEx
rs13030961	LIPT1	cis	normal skin	skin_eQTL

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	chr2:99798400-99800000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:99798400-99803600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:99798400-99803600	Weak transcription	Left Ventricle	heart
5	chr2:99798400-99807200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:99798400-99812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:99798600-99799600	Enhancers	Primary T cells from cord blood	blood
8	chr2:99798600-99799600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:99798600-99799600	Enhancers	Colon Smooth Muscle	Colon
10	chr2:99798600-99799600	Weak transcription	Lung	lung
11	chr2:99798600-99799600	Enhancers	Ovary	ovary
12	chr2:99798600-99799800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:99798600-99799800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:99798600-99799800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:99798600-99799800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:99798600-99799800	Enhancers	Adipose Nuclei	Adipose
17	chr2:99798600-99799800	Enhancers	Brain Hippocampus Middle	brain
18	chr2:99798600-99799800	Enhancers	Fetal Lung	lung
19	chr2:99798600-99799800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:99798600-99800000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr2:99798600-99800000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:99798600-99800400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:99798600-99800400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:99798600-99800400	Enhancers	Liver	Liver
25	chr2:99798600-99800800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:99798600-99801600	Enhancers	Pancreas	Pancrea
27	chr2:99798600-99803000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:99798600-99803400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:99798600-99803400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:99798600-99803400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:99798600-99804600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:99798600-99805400	Weak transcription	Psoas Muscle	Psoas
33	chr2:99798600-99805600	Weak transcription	Brain Anterior Caudate	brain
34	chr2:99798600-99808000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:99798600-99808200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:99798600-99812000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:99798600-99812000	Weak transcription	Aorta	Aorta
38	chr2:99798600-99814000	Weak transcription	Right Ventricle	heart
39	chr2:99798600-99814800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:99798600-99815200	Weak transcription	Esophagus	oesophagus
41	chr2:99798600-99822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:99798600-99836400	Weak transcription	Small Intestine	intestine
43	chr2:99798800-99799600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:99798800-99799600	Enhancers	Placenta	Placenta
45	chr2:99798800-99799600	Enhancers	HMEC	breast
46	chr2:99798800-99799600	Enhancers	NHEK	skin
47	chr2:99798800-99799800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:99798800-99799800	Enhancers	Brain Angular Gyrus	brain
49	chr2:99798800-99799800	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:99798800-99799800	Enhancers	GM12878-XiMat	blood

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