Variant report

Variant	rs2192365
Chromosome Location	chr3:118643409-118643410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11927719	0.95[GIH][hapmap]
rs1474231	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs2110368	0.82[ASW][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs36052974	0.89[AFR][1000 genomes]
rs55758895	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56760652	0.87[EUR][1000 genomes]
rs58521606	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66601488	0.87[EUR][1000 genomes]
rs6765168	0.82[ASW][hapmap];0.95[GIH][hapmap];0.89[MKK][hapmap]
rs6795936	0.82[ASW][hapmap];0.95[GIH][hapmap];0.87[MKK][hapmap]
rs73185814	0.82[ASN][1000 genomes]
rs7617443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7635851	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651619	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118619800-118651400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:118620200-118663200	Weak transcription	Pancreas	Pancrea
3	chr3:118622000-118644600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:118641800-118644600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:118642000-118645000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:118642200-118645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:118642200-118647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:118642200-118647200	Weak transcription	Ovary	ovary
9	chr3:118642600-118645000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:118642800-118645000	Weak transcription	Brain Anterior Caudate	brain
11	chr3:118642800-118645200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:118642800-118651400	Weak transcription	Brain Angular Gyrus	brain
13	chr3:118643000-118643800	Weak transcription	Brain Substantia Nigra	brain
14	chr3:118643200-118651600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:118643400-118643600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:118643400-118643600	Enhancers	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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