Variant report

Variant	rs6581735
Chromosome Location	chr12:67465827-67465828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:67465786-67465836	HUVEC	blood vessel:	n/a
2	chr12:67465786-67465836	H1-hESC	embryonic stem cell:	embryo
3	chr12:67465786-67465836	GM12891	blood:	n/a
4	chr12:67465786-67465836	AG04449	skin:	fetal
5	chr12:67465786-67465836	A549	lung:	n/a
6	chr12:67465786-67465836	Jurkat	blood:	n/a
7	chr12:67465786-67465836	IMR90	lung:	fetal
8	chr12:67465786-67465836	ProgFib	skin:	n/a
9	chr12:67465786-67465836	NT2-D1	testis:	n/a
10	chr12:67465786-67465836	AoSMC	blood vessel:	n/a
11	chr12:67465786-67465836	HRE	kidney:	n/a
12	chr12:67465786-67465836	SK-N-MC	brain:	n/a
13	chr12:67465786-67465836	HCT-116	colon:	n/a
14	chr12:67465786-67465836	HepG2	liver:	n/a
15	chr12:67465786-67465836	SAEC	small airway:	n/a
16	chr12:67465786-67465836	PrEC	prostate:	n/a
17	chr12:67465786-67465836	ovcar-3	ovarian:	n/a
18	chr12:67465786-67465836	HMEC	breast:	n/a
19	chr12:67465786-67465836	AG10803	skin:	n/a
20	chr12:67465786-67465836	AG09309	skin:	n/a
21	chr12:67465786-67465836	CMK	blood:	n/a
22	chr12:67465786-67465836	RPTEC	kidney:	n/a
23	chr12:67465786-67465836	HL-60	blood:	n/a
24	chr12:67465786-67465836	GM06990	blood:	n/a
25	chr12:67465786-67465836	HNPCEpiC	eye:	n/a
26	chr12:67465786-67465836	MCF10A-Er-Src	breast:	n/a
27	chr12:67465786-67465836	NHBE	bronchial:	n/a
28	chr12:67465786-67465836	ECC-1	luminal epithelium:	n/a
29	chr12:67465786-67465836	HEEpiC	esophagus:	n/a
30	chr12:67465786-67465836	AG04450	lung:	fetal
31	chr12:67465786-67465836	NH-A	brain:	n/a
32	chr12:67465786-67465836	HRCEpiC	kidney:	n/a
33	chr12:67465786-67465836	GM12878	blood:	n/a
34	chr12:67465786-67465836	GM19239	blood:	n/a
35	chr12:67465786-67465836	HAEpiC	amniotic membrane:	n/a
36	chr12:67465786-67465836	PANC-1	pancreas:	n/a
37	chr12:67465786-67465836	HCM	heart:	n/a
38	chr12:67465786-67465836	Hepatocyte	liver:	n/a
39	chr12:67465786-67465836	GM12892	blood:	n/a
40	chr12:67465786-67465836	NB4	blood:	n/a
41	chr12:67465786-67465836	Hela-S3	cervix:	n/a
42	chr12:67465786-67465836	LNCaP	prostate:	n/a
43	chr12:67465786-67465836	HCF	heart:	n/a
44	chr12:67465786-67465836	BJ	skin:	n/a
45	chr12:67465786-67465836	HCPEpiC	choroid plexus:	n/a
46	chr12:67465786-67465836	NHDF-neo	bronchial:	n/a
47	chr12:67465786-67465836	Caco-2	colon:	n/a
48	chr12:67465786-67465836	SK-N-SH	brain:	n/a
49	chr12:67465786-67465836	MCF-7	breast:	n/a
50	chr12:67465786-67465836	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
ENSG00000256248	CpG island

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10459266	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10784605	0.93[ASN][1000 genomes]
rs10784606	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10784607	0.93[ASN][1000 genomes]
rs10784608	0.93[ASN][1000 genomes]
rs10784609	0.93[ASN][1000 genomes]
rs10878553	0.89[ASN][1000 genomes]
rs10878559	0.93[ASN][1000 genomes]
rs10878560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10878561	0.93[ASN][1000 genomes]
rs10878566	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1104655	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs11176552	0.89[ASN][1000 genomes]
rs11176555	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs11176556	0.88[ASN][1000 genomes]
rs11176557	0.93[ASN][1000 genomes]
rs11176562	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176567	0.96[ASN][1000 genomes]
rs11176577	0.85[ASN][1000 genomes]
rs11176580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11176582	0.91[ASN][1000 genomes]
rs11176586	0.93[ASN][1000 genomes]
rs11829047	0.93[ASN][1000 genomes]
rs12227624	0.93[ASN][1000 genomes]
rs12227692	0.96[ASN][1000 genomes]
rs12228046	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12228922	0.93[ASN][1000 genomes]
rs12228998	0.95[ASN][1000 genomes]
rs12230670	0.93[ASN][1000 genomes]
rs12231102	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12833688	0.93[ASN][1000 genomes]
rs1465026	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1526835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526839	0.93[ASN][1000 genomes]
rs1589971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2870926	0.89[ASN][1000 genomes]
rs2904534	0.89[ASN][1000 genomes]
rs4244070	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4913529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6581740	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7136952	0.89[ASN][1000 genomes]
rs7138249	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7298268	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311137	0.95[ASN][1000 genomes]
rs7953961	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7959866	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7961562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7961790	0.95[ASN][1000 genomes]
rs7961954	0.95[ASN][1000 genomes]
rs7962241	0.95[ASN][1000 genomes]
rs7974866	0.86[CEU][hapmap];0.93[ASN][1000 genomes]
rs7980101	0.95[ASN][1000 genomes]
rs941096	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv469462	chr12:67361657-67475906	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv559211	chr12:67361657-67475906	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67464400-67468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:67464400-67469000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:67464600-67468000	Weak transcription	NHEK	skin
4	chr12:67464600-67469200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:67465000-67467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:67465000-67469000	Weak transcription	HMEC	breast

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