Variant report

Variant	rs13015287
Chromosome Location	chr2:67488701-67488702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13008890	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17601386	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34262449	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34286589	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62146349	0.90[AMR][1000 genomes];0.93[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	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	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
4	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67485400-67488800	Enhancers	Fetal Stomach	stomach
2	chr2:67486200-67488800	Enhancers	NHEK	skin
3	chr2:67486200-67489000	Enhancers	Colon Smooth Muscle	Colon
4	chr2:67487400-67488800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:67487400-67488800	Active TSS	Aorta	Aorta
6	chr2:67487400-67491400	Weak transcription	Psoas Muscle	Psoas
7	chr2:67487800-67488800	Flanking Active TSS	A549	lung
8	chr2:67488200-67488800	Flanking Active TSS	Fetal Lung	lung
9	chr2:67488200-67488800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr2:67488200-67488800	Flanking Active TSS	HSMMtube	muscle
11	chr2:67488200-67488800	Flanking Active TSS	NHDF-Ad	bronchial
12	chr2:67488200-67488800	Flanking Active TSS	NHLF	lung
13	chr2:67488200-67488800	Flanking Active TSS	Osteobl	bone
14	chr2:67488400-67488800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:67488400-67488800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:67488400-67488800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr2:67488400-67488800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:67488400-67488800	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr2:67488400-67490000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:67488600-67488800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:67488600-67488800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:67488600-67488800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:67488600-67488800	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr2:67488600-67488800	Enhancers	Hela-S3	cervix
25	chr2:67488600-67488800	Flanking Active TSS	NH-A	brain
26	chr2:67488600-67489000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:67488600-67489200	Enhancers	HSMM	muscle
28	chr2:67488600-67495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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