Variant report

Variant	rs16831360
Chromosome Location	chr2:190257254-190257255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16831276	0.81[AFR][1000 genomes]
rs16831348	0.94[AFR][1000 genomes]
rs16831411	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831444	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs16831458	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs17271043	1.00[YRI][hapmap]
rs62187077	0.80[AFR][1000 genomes]
rs62187078	0.80[AFR][1000 genomes]
rs6712164	0.96[AFR][1000 genomes]
rs6715144	0.82[AFR][1000 genomes]
rs6718305	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6718570	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7573786	0.96[AFR][1000 genomes]
rs7588990	0.94[AFR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3451292	chr2:190225623-190266276	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190253400-190268000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:190255800-190258400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:190255800-190258400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:190255800-190258400	Enhancers	HSMM	muscle
5	chr2:190255800-190258400	Enhancers	NHDF-Ad	bronchial
6	chr2:190256000-190257400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:190256000-190257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:190256000-190259400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:190256200-190258400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:190256400-190257400	Weak transcription	HMEC	breast
11	chr2:190256400-190257600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:190256800-190257400	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:190256800-190258400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:190257000-190259400	Enhancers	NHEK	skin
15	chr2:190257000-190259400	Enhancers	NHLF	lung
16	chr2:190257200-190257600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:190257200-190257800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:190257200-190258400	Enhancers	Osteobl	bone
19	chr2:190257200-190259600	Enhancers	Colon Smooth Muscle	Colon

Quick Search:

Input of quick search could be:

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

what's new

Quick links