Variant report

Variant	rs62326847
Chromosome Location	chr4:147124621-147124622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11736109	1.00[ASN][1000 genomes]
rs11736378	1.00[ASN][1000 genomes]
rs62326761	1.00[ASN][1000 genomes]
rs62326796	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62329308	1.00[AFR][1000 genomes]
rs72727921	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727986	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461674	chr4:147047072-147143572	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv595650	chr4:147047072-147143572	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1018859	chr4:147055618-147138397	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147109800-147126000	Weak transcription	Aorta	Aorta
2	chr4:147112000-147127200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:147112200-147124800	Weak transcription	Spleen	Spleen
4	chr4:147112200-147125200	Weak transcription	Pancreas	Pancrea
5	chr4:147112800-147127600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:147113800-147126400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:147113800-147127400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:147114000-147125200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:147114000-147126000	Weak transcription	Liver	Liver
10	chr4:147114000-147126000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:147114000-147127600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:147114000-147129200	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:147114000-147132600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:147114000-147144800	Weak transcription	Gastric	stomach
15	chr4:147114200-147126000	Weak transcription	Adipose Nuclei	Adipose
16	chr4:147114600-147125400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:147117400-147126000	Weak transcription	Primary T cells from cord blood	blood
18	chr4:147123800-147124800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:147123800-147126400	Strong transcription	Primary B cells from cord blood	blood

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

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