Variant report

Variant	rs12317697
Chromosome Location	chr12:4366689-4366690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4365805..4368138-chr12:4380980..4384884,3	K562	blood:
2	chr12:4366467..4368180-chr12:4540128..4541713,2	K562	blood:
3	chr12:4364148..4367095-chr12:4369616..4372234,2	K562	blood:

Variant related genes	Relation type
ENSG00000118971	Chromatin interaction
ENSG00000255920	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11063017	1.00[EUR][1000 genomes]
rs11063033	1.00[EUR][1000 genomes]
rs11063034	1.00[EUR][1000 genomes]
rs11063065	1.00[EUR][1000 genomes]
rs11063066	1.00[EUR][1000 genomes]
rs11835600	1.00[EUR][1000 genomes]
rs12298350	1.00[EUR][1000 genomes]
rs12298481	1.00[EUR][1000 genomes]
rs12301232	1.00[EUR][1000 genomes]
rs12302183	1.00[EUR][1000 genomes]
rs12306960	1.00[EUR][1000 genomes]
rs12307582	1.00[EUR][1000 genomes]
rs12309433	1.00[EUR][1000 genomes]
rs12310230	1.00[EUR][1000 genomes]
rs12310388	1.00[EUR][1000 genomes]
rs12314722	1.00[EUR][1000 genomes]
rs12317148	1.00[EUR][1000 genomes]
rs12318331	1.00[EUR][1000 genomes]
rs12319140	1.00[EUR][1000 genomes]
rs12423695	1.00[EUR][1000 genomes]
rs16931423	1.00[EUR][1000 genomes]
rs17177340	1.00[EUR][1000 genomes]
rs17177360	1.00[EUR][1000 genomes]
rs17183536	1.00[EUR][1000 genomes]
rs17183682	1.00[EUR][1000 genomes]
rs17183710	1.00[EUR][1000 genomes]
rs17183723	1.00[EUR][1000 genomes]
rs17183737	1.00[EUR][1000 genomes]
rs17183792	1.00[EUR][1000 genomes]
rs2534781	1.00[EUR][1000 genomes]
rs2540121	1.00[EUR][1000 genomes]
rs2540124	1.00[EUR][1000 genomes]
rs2540125	1.00[EUR][1000 genomes]
rs2540126	1.00[EUR][1000 genomes]
rs2540127	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541360	chr12:4338851-4389238	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv520791	chr12:4360589-4373928	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv541361	chr12:4362258-4413849	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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