Variant report

Variant	rs1993733
Chromosome Location	chr3:116021453-116021454
allele	A/G
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:11)

rs_ID	r²[population]
rs12494652	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13073491	0.82[CHB][hapmap]
rs2100807	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35300468	0.80[ASN][1000 genomes]
rs4831092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4831093	0.82[CHB][hapmap]
rs6775293	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs7611085	1.00[CHB][hapmap]
rs7621652	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9809878	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9872860	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877360	chr3:115916171-116023990	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv3957	chr3:115986950-116032625	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv877361	chr3:116017931-116138039	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr3:116017000-116029600	Enhancers	Colon Smooth Muscle	Colon
2	chr3:116019200-116025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:116019200-116028400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:116019400-116025000	Weak transcription	Brain Angular Gyrus	brain
5	chr3:116019400-116025000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:116019400-116025000	Weak transcription	Brain Substantia Nigra	brain
7	chr3:116019600-116023200	Weak transcription	Brain Anterior Caudate	brain
8	chr3:116019600-116037000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:116020400-116021800	Enhancers	Fetal Stomach	stomach
10	chr3:116020400-116022200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr3:116020400-116024000	Enhancers	Rectal Smooth Muscle	rectum
12	chr3:116020600-116021800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:116020800-116021600	Enhancers	Stomach Smooth Muscle	stomach
14	chr3:116020800-116021800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:116020800-116021800	Enhancers	Fetal Lung	lung
16	chr3:116020800-116021800	Enhancers	NH-A	brain
17	chr3:116021000-116021600	Enhancers	Fetal Heart	heart
18	chr3:116021200-116023800	Weak transcription	Brain Hippocampus Middle	brain

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

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