Variant report

Variant	rs250970
Chromosome Location	chr2:234984861-234984862
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs250947	0.89[EUR][1000 genomes]
rs250959	0.87[EUR][1000 genomes]
rs250960	0.86[EUR][1000 genomes]
rs627045	0.94[CEU][hapmap]
rs6739108	0.85[CEU][hapmap]
rs689395	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998149	chr2:234978261-235086951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:234972600-234985600	Strong transcription	Liver	Liver
2	chr2:234980600-234985200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:234984000-234985600	Enhancers	Gastric	stomach
4	chr2:234984000-234987000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:234984200-234987000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:234984400-234985600	Bivalent Enhancer	HepG2	liver
7	chr2:234984400-234987200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:234984600-234985400	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:234984800-234985600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:234984800-234985600	Enhancers	Pancreas	Pancrea
11	chr2:234984800-234985600	Enhancers	Stomach Mucosa	stomach
12	chr2:234984800-234985600	Enhancers	Thymus	Thymus
13	chr2:234984800-234986000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:234984800-234987200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:234984800-234987400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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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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