Variant report

Variant	rs11678319
Chromosome Location	chr2:31635139-31635140
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11674948	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11678277	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11678415	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11680402	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11681398	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11685229	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11689709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11695020	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28383069	1.00[AMR][1000 genomes]
rs28383082	1.00[AMR][1000 genomes]
rs28383087	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs34269447	1.00[AMR][1000 genomes]
rs34615314	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs45486298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45548140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45618231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58067858	1.00[AMR][1000 genomes]
rs7424544	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1007179	chr2:31616112-31835410	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1005032	chr2:31616112-31867450	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1013891	chr2:31629179-31854283	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv535612	chr2:31629179-31854283	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
2	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:31599600-31636600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:31633800-31635600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:31634400-31638000	Active TSS	Fetal Intestine Large	intestine
6	chr2:31634600-31635200	Flanking Active TSS	NHEK	skin
7	chr2:31634600-31635600	Enhancers	A549	lung
8	chr2:31634600-31637200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:31634600-31637800	Active TSS	Duodenum Mucosa	Duodenum
10	chr2:31634600-31637800	Active TSS	Fetal Intestine Small	intestine
11	chr2:31634600-31639200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:31634800-31635200	Flanking Active TSS	HMEC	breast
13	chr2:31635000-31635200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:31635000-31635200	Flanking Active TSS	Liver	Liver
15	chr2:31635000-31636200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:31635000-31636200	Weak transcription	NHDF-Ad	bronchial
17	chr2:31635000-31636600	Weak transcription	Placenta	Placenta
18	chr2:31635000-31637200	Weak transcription	Adipose Derived Mesenchymal Stem Cell 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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