Variant report

Variant	rs72681683
Chromosome Location	chr4:129709436-129709437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72681694	0.86[EUR][1000 genomes]
rs72681695	0.86[EUR][1000 genomes]
rs72683603	1.00[ASN][1000 genomes]
rs72683609	1.00[ASN][1000 genomes]
rs72683610	1.00[ASN][1000 genomes]
rs72683616	1.00[ASN][1000 genomes]
rs72683651	1.00[ASN][1000 genomes]
rs72683663	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129704800-129715000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:129708200-129715200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:129708600-129709600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:129708800-129709600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:129708800-129709600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:129708800-129709600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:129708800-129709600	Enhancers	Fetal Muscle Trunk	muscle
8	chr4:129708800-129710000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:129709000-129709600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr4:129709000-129709600	Enhancers	HSMM	muscle
11	chr4:129709200-129709600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:129709200-129709600	Enhancers	Adipose Nuclei	Adipose
13	chr4:129709200-129710000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:129709400-129709600	Enhancers	K562	blood

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

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