Variant report

Variant	rs7312075
Chromosome Location	chr12:85432040-85432041
allele	A/T
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	chr12:85431969-85432049	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:85431940-85432140	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TSPAN19	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10160886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10506911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10506912	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10779148	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10862955	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11116686	0.85[ASN][1000 genomes]
rs11116701	0.97[ASN][1000 genomes]
rs11116702	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11116704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11116707	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11116708	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11116712	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11532387	0.95[ASN][1000 genomes]
rs11609088	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11612309	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs12227853	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12227986	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12229124	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12231122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12301980	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12814669	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12817187	0.91[ASN][1000 genomes]
rs1389798	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1404867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1404868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1494500	0.98[ASN][1000 genomes]
rs1525548	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17012522	0.99[ASN][1000 genomes]
rs17012533	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17012616	0.81[ASN][1000 genomes]
rs1838671	0.99[ASN][1000 genomes]
rs1973816	0.98[ASN][1000 genomes]
rs1976270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2048123	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2174754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2305102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2404772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2404773	0.92[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs3765044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4761074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4761075	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4761077	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4761113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4761114	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4761115	0.97[ASN][1000 genomes]
rs66617212	0.99[ASN][1000 genomes]
rs7133493	0.97[ASN][1000 genomes]
rs7135053	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs718553	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7302315	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7304576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7954110	0.98[ASN][1000 genomes]
rs7956568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7962411	0.98[ASN][1000 genomes]
rs7965562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7974623	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899377	chr12:85157346-85629241	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1040452	chr12:85179586-85747907	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv510605	chr12:85426534-85432900	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
5	esv1798653	chr12:85427691-85434384	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
6	nsv899387	chr12:85427691-85629241	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv455669	chr12:85427691-85638089	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv559653	chr12:85427691-85638089	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv899388	chr12:85427691-85766847	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv899389	chr12:85430187-85499132	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85431200-85441200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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