Variant report

Variant	rs16836620
Chromosome Location	chr2:205640928-205640929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10490273	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12053478	0.93[ASN][1000 genomes]
rs16836589	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17113	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17595547	0.93[ASN][1000 genomes]
rs17638223	0.84[ASN][1000 genomes]
rs2058988	0.92[ASN][1000 genomes]
rs2335639	0.84[ASN][1000 genomes]
rs34071867	0.94[ASN][1000 genomes]
rs56036505	0.84[ASN][1000 genomes]
rs6757142	0.82[ASN][1000 genomes]
rs7591697	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv875724	chr2:205572718-205727222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875726	chr2:205588773-205700834	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875727	chr2:205626483-205715245	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205635600-205645400	Weak transcription	Fetal Brain Male	brain
2	chr2:205640200-205641200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:205640200-205641800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:205640200-205641800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:205640200-205642000	Enhancers	Adipose Nuclei	Adipose
6	chr2:205640200-205642200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:205640200-205642200	Enhancers	Colon Smooth Muscle	Colon
8	chr2:205640200-205642200	Enhancers	Fetal Lung	lung
9	chr2:205640200-205645400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:205640400-205641000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:205640400-205641400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:205640600-205641600	Weak transcription	Psoas Muscle	Psoas
13	chr2:205640600-205641800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr2:205640800-205641000	Weak transcription	Ovary	ovary
15	chr2:205640800-205641200	Weak transcription	Rectal Smooth Muscle	rectum

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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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