Variant report

Variant	rs1947105
Chromosome Location	chr2:233721455-233721456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:233721166-233721848	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr2:233721088-233721743	A549	lung:	n/a	n/a
3	FOSL1	chr2:233721242-233721832	HCT-116	colon:	n/a	n/a
4	EP300	chr2:233720885-233722379	A549	lung:	n/a	n/a
5	POLR2A	chr2:233721180-233721765	Hela-S3	cervix:	n/a	n/a
6	ARID3A	chr2:233721435-233722407	HepG2	liver:	n/a	n/a
7	FOS	chr2:233721364-233721622	MCF10A-Er-Src	breast:	n/a	n/a
8	FOSL1	chr2:233721234-233721790	HCT-116	colon:	n/a	n/a
9	RCOR1	chr2:233721246-233721779	Hela-S3	cervix:	n/a	n/a
10	E2F4	chr2:233721412-233721637	MCF10A-Er-Src	breast:	n/a	n/a
11	TBP	chr2:233721059-233721699	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr2:233721246-233721750	HCT-116	colon:	n/a	n/a
13	USF1	chr2:233721253-233721742	A549	lung:	n/a	n/a
14	SMC3	chr2:233721398-233722341	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:233721387-233722306	IMR90	lung:	n/a	chr2:233722127-233722138
16	MBD4	chr2:233721282-233722390	HepG2	liver:	n/a	n/a
17	GABPA	chr2:233721306-233721735	A549	lung:	n/a	n/a
18	FOSL2	chr2:233721149-233722247	A549	lung:	n/a	n/a
19	NR3C1	chr2:233721205-233721707	A549	lung:	n/a	n/a
20	USF2	chr2:233721228-233722253	Hela-S3	cervix:	n/a	n/a
21	FOS	chr2:233721237-233721687	Hela-S3	cervix:	n/a	n/a
22	BCL3	chr2:233721383-233721717	GM12878	blood:	n/a	n/a
23	RAD21	chr2:233721239-233721757	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr2:233721406-233723010	HepG2	liver:	n/a	n/a
25	JUND	chr2:233721266-233721713	A549	lung:	n/a	n/a
26	GATA3	chr2:233720999-233722459	A549	lung:	n/a	n/a
27	BRCA1	chr2:233721264-233722169	Hela-S3	cervix:	n/a	n/a
28	BCL3	chr2:233721245-233721754	A549	lung:	n/a	n/a
29	MYBL2	chr2:233721199-233722490	HepG2	liver:	n/a	n/a
30	FOS	chr2:233721408-233721678	MCF10A-Er-Src	breast:	n/a	n/a
31	TEAD4	chr2:233721214-233721649	A549	lung:	n/a	n/a
32	MAX	chr2:233721203-233722436	HepG2	liver:	n/a	n/a
33	EP300	chr2:233720925-233722423	A549	lung:	n/a	n/a
34	ZBTB33	chr2:233721299-233721609	A549	lung:	n/a	n/a
35	BHLHE40	chr2:233721381-233722280	HepG2	liver:	n/a	n/a
36	TCF12	chr2:233721256-233721720	A549	lung:	n/a	n/a
37	FOXA2	chr2:233721218-233721698	A549	lung:	n/a	n/a
38	STAT3	chr2:233721254-233721713	Hela-S3	cervix:	n/a	n/a
39	RCOR1	chr2:233721109-233721895	IMR90	lung:	n/a	n/a
40	RAD21	chr2:233721234-233721773	A549	lung:	n/a	n/a
41	CEBPB	chr2:233721177-233722486	A549	lung:	n/a	chr2:233722127-233722138
42	CEBPB	chr2:233721205-233722495	HCT-116	colon:	n/a	chr2:233722127-233722138
43	MAX	chr2:233721051-233722270	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr2:233721375-233721633	HCT-116	colon:	n/a	n/a
45	MXI1	chr2:233721337-233722315	HepG2	liver:	n/a	n/a
46	MBD4	chr2:233721327-233722366	HepG2	liver:	n/a	n/a
47	REST	chr2:233721370-233721719	A549	lung:	n/a	n/a
48	CEBPB	chr2:233721071-233722330	Hela-S3	cervix:	n/a	chr2:233722127-233722138
49	MAX	chr2:233721249-233722307	A549	lung:	n/a	n/a
50	SP1	chr2:233720896-233722408	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233720253..233722044-chr2:234158922..234161619,2	MCF-7	breast:

No data

Variant related genes	Relation type
C2orf82	TF binding region
ENSG00000085978	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1022330	0.88[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs1044480	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10933409	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10933411	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10933412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11555646	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs11676216	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11679079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs11687128	0.81[EUR][1000 genomes]
rs12474040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12478564	0.81[EUR][1000 genomes]
rs12694917	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12987513	0.82[EUR][1000 genomes]
rs12990821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs13003675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs13004406	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs13008942	0.81[EUR][1000 genomes]
rs13011298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[EUR][1000 genomes]
rs13013142	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs13021246	0.81[EUR][1000 genomes]
rs13029336	0.87[TSI][hapmap]
rs13035829	0.81[EUR][1000 genomes]
rs1446308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1446310	0.88[ASN][1000 genomes]
rs1446311	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1801251	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1867778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2012221	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2044449	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166441	0.82[MKK][hapmap]
rs2197563	0.82[ASW][hapmap];0.87[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2250654	0.94[ASN][1000 genomes]
rs2250665	0.94[ASN][1000 genomes]
rs2305137	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305141	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2592102	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2592105	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2592113	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2592115	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[ASN][1000 genomes]
rs2592116	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[ASN][1000 genomes]
rs2592117	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[ASN][1000 genomes]
rs2592126	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2674839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2675957	0.93[ASN][1000 genomes]
rs2675966	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[ASN][1000 genomes]
rs2675967	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.85[MEX][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2675971	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2675973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2675974	0.82[ASW][hapmap];1.00[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];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283466	0.88[ASN][1000 genomes]
rs283468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs283469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs283471	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs283474	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs283475	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs283476	1.00[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[ASN][1000 genomes]
rs283477	0.81[ASN][1000 genomes]
rs283484	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs283486	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs33980184	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35085837	0.82[EUR][1000 genomes]
rs35212961	0.81[EUR][1000 genomes]
rs35362030	0.81[EUR][1000 genomes]
rs36007169	0.80[EUR][1000 genomes]
rs3816334	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817311	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs4517962	0.81[EUR][1000 genomes]
rs4973053	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4973054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4973055	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4973056	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4973560	0.85[ASN][1000 genomes]
rs4973561	0.88[ASN][1000 genomes]
rs56777991	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6437074	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];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66549961	0.81[EUR][1000 genomes]
rs67013068	0.81[EUR][1000 genomes]
rs6704768	0.81[JPT][hapmap]
rs6714245	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6717841	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs6719061	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6724117	0.80[EUR][1000 genomes]
rs6732136	0.81[EUR][1000 genomes]
rs6733151	0.81[EUR][1000 genomes]
rs6738386	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs6745879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs6746294	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs6747645	1.00[CEU][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap]
rs6748027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6761324	0.81[EUR][1000 genomes]
rs709933	0.88[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs709934	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs709938	0.92[ASN][1000 genomes]
rs71421663	0.81[EUR][1000 genomes]
rs737028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7558609	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];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7562712	0.81[EUR][1000 genomes]
rs7568385	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7573208	0.89[ASN][1000 genomes]
rs7587309	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7589201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7591176	0.81[EUR][1000 genomes]
rs7606090	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs778166	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs778338	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs778339	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs778340	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.81[MEX][hapmap];0.86[MKK][hapmap];0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs778368	0.95[ASN][1000 genomes]
rs809639	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[ASN][1000 genomes]
rs812383	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[MKK][hapmap];0.98[ASN][1000 genomes]
rs895430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9653383	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs991873	1.00[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1947105	C2orf82	cis	parietal	SCAN
rs1947105	LOC375313	trans	multi-tissue	Pritchard
rs1947105	GIGYF2	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:233689200-233726400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:233698400-233723600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:233701000-233729200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr2:233703400-233726400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:233703400-233726600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:233703600-233725200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:233703800-233724800	Strong transcription	Dnd41	blood
10	chr2:233704200-233725000	Strong transcription	Fetal Thymus	thymus
11	chr2:233704400-233726200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:233704400-233726600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:233704600-233726000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:233704600-233728000	Strong transcription	Primary T cells from cord blood	blood
15	chr2:233704800-233726600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:233705000-233726600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:233705600-233726600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:233705600-233727800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:233712000-233728200	Strong transcription	Fetal Stomach	stomach
20	chr2:233713600-233721600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:233714000-233726400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:233715800-233725400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:233717000-233721600	Weak transcription	Esophagus	oesophagus
24	chr2:233717000-233721600	Enhancers	HSMMtube	muscle
25	chr2:233717800-233721600	Weak transcription	Fetal Kidney	kidney
26	chr2:233717800-233721600	Enhancers	Hela-S3	cervix
27	chr2:233718000-233721600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:233718000-233723800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:233718000-233724800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:233718000-233726400	Strong transcription	Thymus	Thymus
31	chr2:233718000-233726600	Strong transcription	Adipose Nuclei	Adipose
32	chr2:233718200-233724000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr2:233718200-233726400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:233718200-233726600	Strong transcription	Brain Germinal Matrix	brain
35	chr2:233718400-233726400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:233718600-233721600	Weak transcription	Small Intestine	intestine
37	chr2:233718600-233721800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:233718600-233722800	Weak transcription	Psoas Muscle	Psoas
39	chr2:233718600-233726400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:233718600-233727800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:233718600-233727800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:233718800-233721600	Weak transcription	NHLF	lung
43	chr2:233718800-233726800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:233718800-233727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:233719200-233726600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:233719400-233721600	Weak transcription	NH-A	brain
47	chr2:233719400-233724800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:233719600-233723600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:233719600-233724000	Strong transcription	Primary B cells from cord blood	blood
50	chr2:233719800-233723600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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