Variant report

Variant	rs2272312
Chromosome Location	chr12:49319270-49319271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:151)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:151 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr12:49319131-49319399	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr12:49318291-49319474	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:49318295-49319719	GM12892	blood:	n/a	n/a
4	POLR2A	chr12:49318876-49319438	Hela-S3	cervix:	n/a	n/a
5	RUNX3	chr12:49318943-49319509	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:49318179-49319816	GM12892	blood:	n/a	n/a
7	POLR2A	chr12:49319077-49319362	U87	brain:	n/a	n/a
8	RELA	chr12:49318165-49319537	GM19193	blood:	n/a	chr12:49318256-49318265 chr12:49318256-49318265
9	CTCF	chr12:49319240-49319390	SAEC	small airway:	n/a	n/a
10	POLR2A	chr12:49318846-49319518	ProgFib	skin:	n/a	n/a
11	ZBTB7A	chr12:49318276-49319617	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr12:49319131-49319360	HepG2	liver:	n/a	n/a
13	ZNF143	chr12:49319182-49319388	GM12878	blood:	n/a	n/a
14	TAF1	chr12:49318407-49319544	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:49318294-49319845	MCF-7	breast:	n/a	n/a
16	STAT1	chr12:49319096-49319544	GM12878	blood:	n/a	n/a
17	NR3C1	chr12:49318940-49319719	A549	lung:	n/a	chr12:49319684-49319691 chr12:49319219-49319232
18	ATF2	chr12:49319216-49319750	H1-hESC	embryonic stem cell:	n/a	n/a
19	NFATC1	chr12:49318987-49319676	GM12878	blood:	n/a	n/a
20	EBF1	chr12:49319208-49319553	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:49318723-49319592	PFSK-1	brain:	n/a	n/a
22	POU2F2	chr12:49319102-49319489	GM12878	blood:	n/a	n/a
23	MAX	chr12:49318264-49319714	A549	lung:	n/a	chr12:49318695-49318702 chr12:49318745-49318754 chr12:49318693-49318704 chr12:49318693-49318703 chr12:49318694-49318703 chr12:49318690-49318705 chr12:49318693-49318704 chr12:49318743-49318756 chr12:49318694-49318703 chr12:49318744-49318755 chr12:49318692-49318705 chr12:49318694-49318704
24	HEY1	chr12:49319092-49319379	HepG2	liver:	n/a	chr12:49319285-49319300
25	POU2F2	chr12:49318814-49319479	GM12891	blood:	n/a	n/a
26	POLR2A	chr12:49318808-49319621	HL-60	blood:	n/a	n/a
27	POLR2A	chr12:49318967-49319474	K562	blood:	n/a	n/a
28	POLR2A	chr12:49318491-49319551	GM10847	blood:	n/a	n/a
29	POLR2A	chr12:49318182-49319869	GM12892	blood:	n/a	n/a
30	RXRA	chr12:49319021-49319292	H1-hESC	embryonic stem cell:	n/a	n/a
31	FOXM1	chr12:49318829-49319666	GM12878	blood:	n/a	n/a
32	SIN3A	chr12:49318365-49319780	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:49318390-49319574	GM15510	blood:	n/a	n/a
34	STAT5A	chr12:49318066-49319746	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:49318783-49319618	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr12:49318815-49319528	MCF-7	breast:	n/a	n/a
37	CHD2	chr12:49318448-49319687	GM12878	blood:	n/a	n/a
38	TAF1	chr12:49319110-49319486	GM12878	blood:	n/a	n/a
39	FOXM1	chr12:49318349-49319560	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:49317828-49319985	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr12:49318352-49319741	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:49318419-49319559	GM18526	blood:	n/a	n/a
43	ATF2	chr12:49318910-49319625	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:49319086-49319449	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:49318270-49319815	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr12:49319075-49319409	A549	lung:	n/a	n/a
47	POLR2A	chr12:49318287-49319692	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr12:49319202-49319442	MCF-7	breast:	n/a	n/a
49	POLR2A	chr12:49318272-49319694	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr12:49318878-49319485	U87	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49319263-49319313	RPTEC	kidney:	n/a
2	chr12:49319263-49319313	PANC-1	pancreas:	n/a
3	chr12:49319263-49319313	NT2-D1	testis:	n/a
4	chr12:49319263-49319313	GM06990	blood:	n/a
5	chr12:49319263-49319313	SAEC	small airway:	n/a
6	chr12:49319263-49319313	U87	brain:	n/a
7	chr12:49319263-49319313	AG04449	skin:	fetal
8	chr12:49319263-49319313	AG10803	skin:	n/a
9	chr12:49319263-49319313	SKMC	muscle:	n/a
10	chr12:49319263-49319313	LNCaP	prostate:	n/a
11	chr12:49319263-49319313	NB4	blood:	n/a
12	chr12:49319263-49319313	AG09319	gingival:	n/a
13	chr12:49319263-49319313	K562	blood:	n/a
14	chr12:49319263-49319313	Jurkat	blood:	n/a
15	chr12:49319263-49319313	ProgFib	skin:	n/a
16	chr12:49319263-49319313	PrEC	prostate:	n/a
17	chr12:49319263-49319313	A549	lung:	n/a
18	chr12:49319263-49319313	AG09309	skin:	n/a
19	chr12:49319263-49319313	HEK293	kidney:	embryo
20	chr12:49319263-49319313	Caco-2	colon:	n/a
21	chr12:49319263-49319313	GM19239	blood:	n/a
22	chr12:49319263-49319313	HCPEpiC	choroid plexus:	n/a
23	chr12:49319263-49319313	Hepatocyte	liver:	n/a
24	chr12:49319263-49319313	GM12892	blood:	n/a
25	chr12:49319263-49319313	HEEpiC	esophagus:	n/a
26	chr12:49319263-49319313	HL-60	blood:	n/a
27	chr12:49319263-49319313	SK-N-SH	brain:	n/a
28	chr12:49319263-49319313	MCF10A-Er-Src	breast:	n/a
29	chr12:49319263-49319313	Hela-S3	cervix:	n/a
30	chr12:49319263-49319313	HRCEpiC	kidney:	n/a
31	chr12:49319263-49319313	BE2_C	brain:	n/a
32	chr12:49319263-49319313	HAEpiC	amniotic membrane:	n/a
33	chr12:49319263-49319313	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:49319263-49319313	GM12878	blood:	n/a
35	chr12:49319263-49319313	H1-hESC	embryonic stem cell:	embryo
36	chr12:49319263-49319313	HCT-116	colon:	n/a
37	chr12:49319263-49319313	SK-N-MC	brain:	n/a
38	chr12:49319263-49319313	MCF-7	breast:	n/a
39	chr12:49319263-49319313	AG04450	lung:	fetal
40	chr12:49319263-49319313	NH-A	brain:	n/a
41	chr12:49319263-49319313	IMR90	lung:	fetal
42	chr12:49319263-49319313	SK-N-SH_RA	brain:	n/a
43	chr12:49319263-49319313	NHDF-neo	bronchial:	n/a
44	chr12:49319263-49319313	T-47D	breast:	n/a
45	chr12:49319263-49319313	ECC-1	luminal epithelium:	n/a
46	chr12:49319263-49319313	GM12891	blood:	n/a
47	chr12:49319263-49319313	ovcar-3	ovarian:	n/a
48	chr12:49319263-49319313	PFSK-1	brain:	n/a
49	chr12:49319263-49319313	HCM	heart:	n/a
50	chr12:49319263-49319313	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:49211386..49213758-chr12:49317822..49319346,2	MCF-7	breast:
2	chr12:49319039..49321186-chr12:49348048..49350961,2	MCF-7	breast:
3	chr12:49318968..49320565-chr12:49363213..49364979,2	MCF-7	breast:
4	chr12:49316917..49319846-chr12:49321799..49325494,4	K562	blood:
5	chr12:49317412..49320697-chr12:49349793..49352537,4	MCF-7	breast:
6	chr12:49318409..49320473-chr12:49386787..49389154,2	MCF-7	breast:
7	chr12:49257454..49260772-chr12:49317154..49320539,3	MCF-7	breast:
8	chr12:49245963..49247751-chr12:49317835..49320703,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP11-1	chr12:49319083-49319293	NONHSAT028048

No data

Variant related genes	Relation type
FKBP11	TF binding region
FKBP11	CpG island
ENSG00000169884	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000172602	Chromatin interaction
ENSG00000201678	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000258283	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1051886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1054376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10747556	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747557	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10747558	0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783289	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10783290	0.92[ASN][1000 genomes]
rs10783292	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10783294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783295	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783297	0.93[ASN][1000 genomes]
rs10875883	0.82[CHB][hapmap]
rs10875885	0.83[CHB][hapmap]
rs10875886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10875888	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875893	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875896	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10875897	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875898	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875900	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875901	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875902	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1111662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11168779	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168795	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168797	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11168798	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168800	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168801	0.86[ASN][1000 genomes]
rs11168803	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168811	0.82[ASN][1000 genomes]
rs11168812	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11608916	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11610497	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11614474	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12227240	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12228521	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12229275	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12369505	0.80[CHB][hapmap]
rs12423542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12579249	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1318692	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1690182	0.91[ASN][1000 genomes]
rs1818996	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1830192	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2030900	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2070940	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2073480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2131713	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2272311	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2293449	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2368701	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2453063	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2463175	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2641450	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2694839	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2694840	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3741627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759146	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782353	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3809147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825182	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4018510	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4237854	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4433614	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4526804	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760600	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760647	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4760661	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760662	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4760663	0.82[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760664	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760665	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760666	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760667	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4760668	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58023472	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59087236	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61941142	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61942166	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61942167	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61942169	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61942207	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61942209	0.83[ASN][1000 genomes]
rs6580696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7134686	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7297958	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7298330	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304942	0.99[ASN][1000 genomes]
rs7313988	0.92[ASN][1000 genomes]
rs7489036	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963018	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963160	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976473	0.87[ASN][1000 genomes]
rs833820	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs833821	0.91[ASN][1000 genomes]
rs833822	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs833827	0.92[ASN][1000 genomes]
rs833828	0.90[ASN][1000 genomes]
rs833839	0.85[ASN][1000 genomes]
rs833840	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs833841	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs833842	0.84[ASN][1000 genomes]
rs833843	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs961320	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9645813	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9783452	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9783477	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9788029	0.97[ASN][1000 genomes]
rs9795742	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9796008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2272312	RP11-302B13.1	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49314400-49338000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:49314400-49338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49315800-49321000	Weak transcription	K562	blood
4	chr12:49317200-49319400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:49317800-49319400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:49317800-49319400	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr12:49318000-49319400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:49318000-49319400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:49318000-49319400	Active TSS	Rectal Smooth Muscle	rectum
10	chr12:49318000-49319800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:49318200-49319400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:49318200-49319400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
13	chr12:49318200-49319400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr12:49318200-49319400	Active TSS	Gastric	stomach
15	chr12:49318200-49319600	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr12:49318200-49319800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:49318200-49319800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:49318200-49319800	Active TSS	Right Ventricle	heart
19	chr12:49318400-49319400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:49318400-49319400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:49318400-49319400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:49318400-49319400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr12:49318400-49319400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:49318400-49319400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:49318400-49319400	Active TSS	Primary B cells from cord blood	blood
26	chr12:49318400-49319400	Active TSS	Primary hematopoietic stem cells	blood
27	chr12:49318400-49319400	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr12:49318400-49319400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:49318400-49319400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr12:49318400-49319400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:49318400-49319400	Active TSS	Brain Angular Gyrus	brain
32	chr12:49318400-49319400	Active TSS	Brain Substantia Nigra	brain
33	chr12:49318400-49319400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr12:49318400-49319400	Active TSS	Esophagus	oesophagus
35	chr12:49318400-49319400	Active TSS	Fetal Intestine Large	intestine
36	chr12:49318400-49319400	Active TSS	Fetal Intestine Small	intestine
37	chr12:49318400-49319400	Active TSS	Ovary	ovary
38	chr12:49318400-49319400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr12:49318400-49319400	Active TSS	Thymus	Thymus
40	chr12:49318400-49319400	Active TSS	GM12878-XiMat	blood
41	chr12:49318400-49319400	Active TSS	Hela-S3	cervix
42	chr12:49318400-49319400	Active TSS	HSMMtube	muscle
43	chr12:49318400-49319400	Active TSS	NHDF-Ad	bronchial
44	chr12:49318400-49319600	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr12:49318400-49319600	Active TSS	Fetal Kidney	kidney
46	chr12:49318400-49319600	Active TSS	Fetal Lung	lung
47	chr12:49318400-49319600	Active TSS	Psoas Muscle	Psoas
48	chr12:49318400-49319600	Active TSS	Small Intestine	intestine
49	chr12:49318400-49319800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr12:49318400-49319800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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