Variant report

Variant	rs10877885
Chromosome Location	chr12:62995984-62995985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:268)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:62995653-62997710	K562	blood:	n/a	n/a
2	POLR2A	chr12:62995958-62997846	GM12878	blood:	n/a	n/a
3	SPI1	chr12:62995969-62996182	GM12878	blood:	n/a	n/a
4	STAT5A	chr12:62995926-62997818	GM12878	blood:	n/a	n/a
5	YY1	chr12:62995966-62996846	GM12892	blood:	n/a	chr12:62996526-62996546
6	TCF12	chr12:62995904-62997750	ECC-1	luminal epithelium:	n/a	n/a
7	BCLAF1	chr12:62995956-62998123	GM12878	blood:	n/a	chr12:62997568-62997577 chr12:62997367-62997376
8	POLR2A	chr12:62995902-62998525	GM12892	blood:	n/a	n/a
9	STAT5A	chr12:62995969-62997386	K562	blood:	n/a	n/a
10	CTCF	chr12:62995856-62997541	K562	blood:	n/a	n/a
11	IKZF1	chr12:62995857-62996347	GM12878	blood:	n/a	n/a
12	EP300	chr12:62995888-62997845	SK-N-SH	brain:	n/a	chr12:62997304-62997320 chr12:62997256-62997265 chr12:62997254-62997263 chr12:62997331-62997347 chr12:62997248-62997264
13	POLR2A	chr12:62995944-62998364	HUVEC	blood vessel:	n/a	n/a
14	SRF	chr12:62995941-62997444	MCF-7	breast:	n/a	n/a
15	YY1	chr12:62995882-62996918	A549	lung:	n/a	chr12:62996526-62996546
16	ETS1	chr12:62995899-62997725	A549	lung:	n/a	n/a
17	PML	chr12:62995907-62997410	K562	blood:	n/a	n/a
18	TBP	chr12:62995741-62998021	K562	blood:	n/a	n/a
19	YY1	chr12:62995734-62997844	SK-N-SH	brain:	n/a	chr12:62997256-62997265 chr12:62997248-62997262 chr12:62997369-62997378 chr12:62996526-62996546 chr12:62997251-62997265
20	SMC3	chr12:62995757-62998051	Hela-S3	cervix:	n/a	n/a
21	NR3C1	chr12:62995976-62997231	A549	lung:	n/a	n/a
22	ATF2	chr12:62995869-62997935	GM12878	blood:	n/a	n/a
23	MAX	chr12:62995649-62997829	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr12:62995869-62998134	PFSK-1	brain:	n/a	n/a
25	YY1	chr12:62995984-62997260	H1-hESC	embryonic stem cell:	n/a	chr12:62996526-62996546
26	STAT5A	chr12:62995946-62997967	GM12878	blood:	n/a	n/a
27	YY1	chr12:62995939-62997748	K562	blood:	n/a	chr12:62997256-62997265 chr12:62997248-62997262 chr12:62997369-62997378 chr12:62996526-62996546 chr12:62997251-62997265
28	POLR2A	chr12:62995037-63001628	GM12891	blood:	n/a	n/a
29	REST	chr12:62995951-62996919	A549	lung:	n/a	n/a
30	POLR2A	chr12:62995429-62998294	GM12892	blood:	n/a	n/a
31	USF1	chr12:62995981-62996856	A549	lung:	n/a	n/a
32	POLR2A	chr12:62995668-63001032	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr12:62995929-62998181	A549	lung:	n/a	n/a
34	MYC	chr12:62995908-62997828	K562	blood:	n/a	n/a
35	TAF1	chr12:62995756-62997742	ECC-1	luminal epithelium:	n/a	n/a
36	YY1	chr12:62995964-62997754	GM12892	blood:	n/a	chr12:62997256-62997265 chr12:62997248-62997262 chr12:62997369-62997378 chr12:62996526-62996546 chr12:62997251-62997265
37	CREB1	chr12:62995896-62997519	K562	blood:	n/a	n/a
38	MYC	chr12:62995471-62997683	MCF10A-Er-Src	breast:	n/a	n/a
39	NFIC	chr12:62995907-62997747	GM12878	blood:	n/a	n/a
40	CREB1	chr12:62995973-62997722	A549	lung:	n/a	n/a
41	PAX5	chr12:62995978-62997692	GM12878	blood:	n/a	chr12:62997252-62997261
42	TBL1XR1	chr12:62995164-62997236	K562	blood:	n/a	n/a
43	MEF2A	chr12:62995963-62997734	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:62995615-62997903	GM18951	blood:	n/a	n/a
45	TEAD4	chr12:62995967-62996466	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr12:62995982-62997649	SK-N-SH	brain:	n/a	n/a
47	SPI1	chr12:62995680-62996548	GM12878	blood:	n/a	n/a
48	MAFK	chr12:62995918-62997466	Hela-S3	cervix:	n/a	n/a
49	SPI1	chr12:62995924-62996234	K562	blood:	n/a	n/a
50	MYC	chr12:62995735-62997749	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:62995960-62996010	U87	brain:	n/a
2	chr12:62995960-62996010	Caco-2	colon:	n/a
3	chr12:62995960-62996010	NT2-D1	testis:	n/a
4	chr12:62995960-62996010	BE2_C	brain:	n/a
5	chr12:62995960-62996010	LNCaP	prostate:	n/a
6	chr12:62995960-62996010	HCM	heart:	n/a
7	chr12:62995960-62996010	Hepatocyte	liver:	n/a
8	chr12:62995960-62996010	HEK293	kidney:	embryo
9	chr12:62995960-62996010	RPTEC	kidney:	n/a
10	chr12:62995960-62996010	MCF10A-Er-Src	breast:	n/a
11	chr12:62995960-62996010	Hela-S3	cervix:	n/a
12	chr12:62995960-62996010	SK-N-SH_RA	brain:	n/a
13	chr12:62995960-62996010	PFSK-1	brain:	n/a
14	chr12:62995960-62996010	HAEpiC	amniotic membrane:	n/a
15	chr12:62995960-62996010	A549	lung:	n/a
16	chr12:62995960-62996010	AG04449	skin:	fetal
17	chr12:62995960-62996010	H1-hESC	embryonic stem cell:	embryo
18	chr12:62995960-62996010	HRE	kidney:	n/a
19	chr12:62995960-62996010	GM12892	blood:	n/a
20	chr12:62995960-62996010	HL-60	blood:	n/a
21	chr12:62995960-62996010	HepG2	liver:	n/a
22	chr12:62995960-62996010	IMR90	lung:	fetal
23	chr12:62995960-62996010	HMEC	breast:	n/a
24	chr12:62995960-62996010	NH-A	brain:	n/a
25	chr12:62995960-62996010	HUVEC	blood vessel:	n/a
26	chr12:62995960-62996010	HNPCEpiC	eye:	n/a
27	chr12:62995960-62996010	AG09319	gingival:	n/a
28	chr12:62995960-62996010	HCT-116	colon:	n/a
29	chr12:62995960-62996010	HEEpiC	esophagus:	n/a
30	chr12:62995960-62996010	AG09309	skin:	n/a
31	chr12:62995960-62996010	SAEC	small airway:	n/a
32	chr12:62995960-62996010	GM19239	blood:	n/a
33	chr12:62995960-62996010	HCPEpiC	choroid plexus:	n/a
34	chr12:62995960-62996010	MCF-7	breast:	n/a
35	chr12:62995960-62996010	GM12891	blood:	n/a
36	chr12:62995960-62996010	PrEC	prostate:	n/a
37	chr12:62995960-62996010	SK-N-MC	brain:	n/a
38	chr12:62995960-62996010	K562	blood:	n/a
39	chr12:62995960-62996010	PANC-1	pancreas:	n/a
40	chr12:62995960-62996010	SK-N-SH	brain:	n/a
41	chr12:62995960-62996010	AoSMC	blood vessel:	n/a
42	chr12:62995960-62996010	ECC-1	luminal epithelium:	n/a
43	chr12:62995960-62996010	AG04450	lung:	fetal
44	chr12:62995960-62996010	T-47D	breast:	n/a
45	chr12:62995960-62996010	CMK	blood:	n/a
46	chr12:62995960-62996010	NHDF-neo	bronchial:	n/a
47	chr12:62995960-62996010	NHBE	bronchial:	n/a
48	chr12:62995960-62996010	BJ	skin:	n/a
49	chr12:62995960-62996010	NB4	blood:	n/a
50	chr12:62995960-62996010	GM12878	blood:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62975484..62979404-chr12:62993353..62996237,5	K562	blood:
2	chr12:62995343..62997102-chr12:63326865..63328948,2	K562	blood:
3	chr12:62859286..62861275-chr12:62995759..62997449,2	MCF-7	breast:
4	chr12:62970868..62972406-chr12:62995221..62998178,3	MCF-7	breast:
5	chr12:62995501..62997585-chr17:56736447..56738062,2	MCF-7	breast:
6	chr11:114271284..114272147-chr12:62995896..62996893,2	HCT-116	colon:
7	chr12:62978537..62982109-chr12:62993246..62999032,10	MCF-7	breast:
8	chr12:62978077..62985603-chr12:62994484..62999339,10	MCF-7	breast:
9	chr12:58335072..58337363-chr12:62995466..62997804,2	K562	blood:
10	chr12:62995008..63000778-chr12:63178750..63184772,7	MCF-7	breast:
11	chr12:62983638..62988242-chr12:62993831..62996165,4	K562	blood:
12	chr12:62994712..62998388-chr12:63040223..63045301,6	K562	blood:
13	chr12:62995127..63000683-chr12:63174450..63183073,15	MCF-7	breast:
14	chr12:62916495..62918610-chr12:62994074..62996393,2	MCF-7	breast:
15	chr12:62975073..62982220-chr12:62994233..63000379,9	K562	blood:
16	chr12:62993913..62996501-chr9:136325777..136327480,2	MCF-7	breast:
17	chr1:179677443..179680322-chr12:62995877..62997836,2	MCF-7	breast:
18	chr12:62859264..62862504-chr12:62994446..62997723,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257354	TF binding region
MIRLET7I	TF binding region
ENSG00000257354	CpG island
MIRLET7I	CpG island
ENSG00000166896	Chromatin interaction
ENSG00000061987	Chromatin interaction
ENSG00000221547	Chromatin interaction
ENSG00000076053	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000160325	Chromatin interaction
ENSG00000255663	Chromatin interaction
ENSG00000238475	Chromatin interaction
ENSG00000111110	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10128830	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10128959	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10161549	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219555	0.94[ASW][hapmap];0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10219765	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10735907	0.87[EUR][1000 genomes]
rs10735909	0.86[EUR][1000 genomes]
rs10747963	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs10747966	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10784299	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10784302	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10784303	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10784306	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10784307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877860	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10877863	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10877865	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10877866	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10877868	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10877869	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877872	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10877873	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877878	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877882	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10877883	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877886	1.00[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877887	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877888	0.82[CEU][hapmap];0.95[CHB][hapmap];0.89[MKK][hapmap];0.86[ASN][1000 genomes]
rs11174493	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11174497	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11174507	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174513	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174520	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174534	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174538	0.91[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.85[ASN][1000 genomes]
rs11174539	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11174540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174542	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174545	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11174550	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174559	0.83[ASN][1000 genomes]
rs11495588	0.81[ASN][1000 genomes]
rs12227568	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12300696	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12305077	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12308140	0.94[MKK][hapmap];0.81[YRI][hapmap]
rs12309683	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371971	0.90[JPT][hapmap]
rs12371972	0.90[JPT][hapmap]
rs12578200	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12580048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581171	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12809279	0.80[ASN][1000 genomes]
rs12810119	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12829103	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498713	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2029937	0.87[EUR][1000 genomes]
rs2047478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2047479	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2220980	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35409044	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4763021	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4763174	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4763177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4763179	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4763180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581452	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6581454	0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7134302	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7136993	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71453871	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7294404	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7298782	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7302027	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7308021	0.85[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs7316612	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7957417	0.82[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7958597	0.81[CHB][hapmap]
rs7963657	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975183	0.93[ASW][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7975560	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[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	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10877885	NXPH4	cis	cerebellum	SCAN
rs10877885	TBK1	cis	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62950600-62996200	Weak transcription	Small Intestine	intestine
2	chr12:62953400-62996000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:62966600-62996000	Weak transcription	Esophagus	oesophagus
4	chr12:62969000-62996000	Weak transcription	Left Ventricle	heart
5	chr12:62969000-62996000	Weak transcription	Ovary	ovary
6	chr12:62981600-62996000	Weak transcription	Aorta	Aorta
7	chr12:62984200-62996000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:62984800-62996000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:62989200-62996000	Weak transcription	Colonic Mucosa	Colon
10	chr12:62989400-62996000	Weak transcription	Psoas Muscle	Psoas
11	chr12:62994200-62996000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:62995200-62996000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:62995200-62996000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:62995200-62996000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:62995200-62996000	Enhancers	Fetal Intestine Small	intestine
16	chr12:62995200-62999600	Active TSS	Fetal Kidney	kidney
17	chr12:62995400-62996000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:62995400-62996000	Enhancers	Stomach Mucosa	stomach
19	chr12:62995400-62998000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:62995600-62996000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:62995600-62996000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:62995600-62996000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:62995600-62996000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr12:62995600-62996000	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:62995600-62996000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr12:62995600-62996000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:62995600-62996000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:62995600-62996000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:62995600-62996000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:62995600-62996000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:62995600-62996000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:62995600-62996000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr12:62995600-62996000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:62995600-62996000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:62995600-62996000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:62995600-62996000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr12:62995600-62996000	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr12:62995600-62996000	Flanking Active TSS	Fetal Lung	lung
39	chr12:62995600-62996000	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr12:62995600-62996000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr12:62995600-62996000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr12:62995600-62996000	Flanking Active TSS	A549	lung
43	chr12:62995600-62996000	Flanking Active TSS	HSMMtube	muscle
44	chr12:62995600-62996200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr12:62995600-62996200	Flanking Active TSS	Dnd41	blood
46	chr12:62995600-62996200	Flanking Active TSS	HUVEC	blood vessel
47	chr12:62995600-62996200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr12:62995600-62996200	Flanking Active TSS	NH-A	brain
49	chr12:62995600-62996200	Flanking Active TSS	Osteobl	bone
50	chr12:62995600-62996400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links