Variant report

Variant	rs16909916
Chromosome Location	chr12:9779429-9779430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11052274	0.91[EUR][1000 genomes]
rs11830731	0.91[EUR][1000 genomes]
rs12322854	0.88[EUR][1000 genomes]
rs1560009	0.91[EUR][1000 genomes]
rs1560010	0.91[EUR][1000 genomes]
rs16914229	0.91[EUR][1000 genomes]
rs16914557	0.87[EUR][1000 genomes]
rs9919714	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv2757489	chr12:9583455-9810764	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9770200-9786600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:9771600-9794200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:9771600-9799200	Weak transcription	Fetal Lung	lung
4	chr12:9778000-9779600	Weak transcription	Primary T cells from cord blood	blood
5	chr12:9778000-9785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:9778000-9785400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:9778200-9785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:9778200-9785400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:9778200-9787400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:9779200-9779800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:9779400-9779800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:9779400-9779800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:9779400-9779800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:9779400-9779800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr12:9779400-9779800	Enhancers	Dnd41	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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