Variant report

Variant	rs56007616
Chromosome Location	chr3:118994959-118994960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10511385	0.93[EUR][1000 genomes]
rs11918661	0.94[EUR][1000 genomes]
rs11922580	0.94[EUR][1000 genomes]
rs12639418	0.94[EUR][1000 genomes]
rs16829649	0.93[EUR][1000 genomes]
rs55642684	0.93[EUR][1000 genomes]
rs56054255	0.94[EUR][1000 genomes]
rs56269733	0.82[ASN][1000 genomes]
rs56355928	0.94[EUR][1000 genomes]
rs724653	0.84[ASN][1000 genomes]
rs7625392	0.84[ASN][1000 genomes]
rs7640033	0.93[ASN][1000 genomes]
rs9813454	0.94[EUR][1000 genomes]
rs9828634	0.94[EUR][1000 genomes]
rs9839704	0.94[EUR][1000 genomes]
rs9856953	0.94[EUR][1000 genomes]
rs9884021	0.94[EUR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118993600-118995000	Enhancers	A549	lung
2	chr3:118994200-118995800	Enhancers	Primary T cells from cord blood	blood
3	chr3:118994400-118995200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:118994400-118995600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:118994400-118995600	Enhancers	Fetal Thymus	thymus
6	chr3:118994400-118995600	Enhancers	Thymus	Thymus
7	chr3:118994400-118995800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:118994400-118995800	Enhancers	Left Ventricle	heart
9	chr3:118994400-118996400	Enhancers	Lung	lung
10	chr3:118994600-118995000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:118994600-118995000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:118994600-118996400	Enhancers	Placenta	Placenta
13	chr3:118994800-118995200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr3:118994800-118995400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr3:118994800-118997800	Weak transcription	Fetal Heart	heart
16	chr3:118994800-118998000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:118994800-118998000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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