Variant report

Variant	rs11675622
Chromosome Location	chr2:67443429-67443430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10183213	0.96[ASN][1000 genomes]
rs10183986	0.81[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10195788	0.96[ASN][1000 genomes]
rs10206916	0.81[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13432015	0.81[CEU][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs28429942	0.93[ASN][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	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2759058	chr2:67266707-67465662	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757805	chr2:67287279-67465662	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv428397	chr2:67287279-67465662	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv1008421	chr2:67417384-67476219	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	nsv1001672	chr2:67429146-67498042	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:67440800-67444400	Enhancers	Stomach Mucosa	stomach
2	chr2:67441000-67444200	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:67441400-67445000	Enhancers	Fetal Lung	lung
4	chr2:67441600-67444400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:67442000-67443800	Enhancers	Fetal Kidney	kidney
6	chr2:67442000-67443800	Enhancers	Stomach Smooth Muscle	stomach
7	chr2:67442200-67443800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:67442200-67443800	Enhancers	NHLF	lung
9	chr2:67442200-67444200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:67442200-67444800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:67442400-67444200	Enhancers	Colon Smooth Muscle	Colon
12	chr2:67442400-67444600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:67442400-67444600	Enhancers	Fetal Stomach	stomach
14	chr2:67442600-67444200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:67443000-67446200	Weak transcription	Pancreas	Pancrea
16	chr2:67443200-67443600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:67443400-67443800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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

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