Variant report

Variant	rs9690596
Chromosome Location	chr7:12776147-12776148
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12774986..12777749-chr7:12783084..12785237,2	K562	blood:
2	chr7:12775054..12776662-chr7:12793532..12795288,2	K562	blood:
3	chr7:12775054..12776736-chr7:12793008..12795288,3	K562	blood:
4	chr7:12773603..12776314-chr7:12785559..12788472,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10227444	0.84[ASN][1000 genomes]
rs10228692	0.82[ASN][1000 genomes]
rs10229334	0.82[ASN][1000 genomes]
rs10230505	0.82[ASN][1000 genomes]
rs10232476	0.81[ASN][1000 genomes]
rs10232482	0.82[ASN][1000 genomes]
rs10232492	0.81[ASN][1000 genomes]
rs10241274	0.83[ASN][1000 genomes]
rs10251149	0.82[ASN][1000 genomes]
rs10251270	0.82[ASN][1000 genomes]
rs10253749	0.84[ASN][1000 genomes]
rs10266373	0.82[ASN][1000 genomes]
rs10271036	0.84[ASN][1000 genomes]
rs11973922	0.82[ASN][1000 genomes]
rs11973968	0.82[ASN][1000 genomes]
rs11980726	0.81[ASN][1000 genomes]
rs11981654	0.82[ASN][1000 genomes]
rs11984319	0.82[ASN][1000 genomes]
rs11984405	0.80[ASN][1000 genomes]
rs1357821	0.82[ASN][1000 genomes]
rs1404521	0.82[ASN][1000 genomes]
rs1524936	0.84[ASN][1000 genomes]
rs1830019	0.84[ASN][1000 genomes]
rs1917489	0.82[ASN][1000 genomes]
rs2058046	0.82[ASN][1000 genomes]
rs2204398	0.82[ASN][1000 genomes]
rs2884002	0.82[ASN][1000 genomes]
rs34243004	0.81[ASN][1000 genomes]
rs34687763	0.82[ASN][1000 genomes]
rs34903132	0.81[ASN][1000 genomes]
rs4428564	0.82[ASN][1000 genomes]
rs4721128	0.80[ASN][1000 genomes]
rs4721129	0.81[ASN][1000 genomes]
rs4721130	0.81[ASN][1000 genomes]
rs4721131	0.81[ASN][1000 genomes]
rs4721132	0.82[ASN][1000 genomes]
rs4721133	0.82[ASN][1000 genomes]
rs55864612	0.84[ASN][1000 genomes]
rs56309306	0.81[ASN][1000 genomes]
rs57452384	0.84[ASN][1000 genomes]
rs59470504	0.84[ASN][1000 genomes]
rs6460975	0.82[ASN][1000 genomes]
rs6460976	0.82[ASN][1000 genomes]
rs6949193	0.82[ASN][1000 genomes]
rs6954600	0.84[ASN][1000 genomes]
rs6955313	0.84[ASN][1000 genomes]
rs6956267	0.80[ASN][1000 genomes]
rs6961147	0.84[ASN][1000 genomes]
rs6965183	0.84[ASN][1000 genomes]
rs6971540	0.82[ASN][1000 genomes]
rs6973261	0.82[ASN][1000 genomes]
rs6977767	0.82[ASN][1000 genomes]
rs6978451	0.82[ASN][1000 genomes]
rs6979212	0.82[ASN][1000 genomes]
rs7789972	0.82[ASN][1000 genomes]
rs7790314	0.82[ASN][1000 genomes]
rs7790399	0.82[ASN][1000 genomes]
rs9690689	0.83[ASN][1000 genomes]
rs9690691	0.84[ASN][1000 genomes]
rs9691242	0.84[ASN][1000 genomes]
rs9692011	0.81[ASN][1000 genomes]

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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv887641	chr7:12747443-12782062	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv3323579	chr7:12775627-12777575	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12771200-12789400	Weak transcription	Psoas Muscle	Psoas
2	chr7:12772000-12777000	Weak transcription	Hela-S3	cervix
3	chr7:12774600-12777000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:12775400-12777000	Weak transcription	K562	blood

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