Variant report

Variant	rs586611
Chromosome Location	chr3:138831338-138831339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs594100	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs600254	1.00[AMR][1000 genomes]
rs602535	1.00[AMR][1000 genomes]
rs610792	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs646859	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs652563	0.86[AFR][1000 genomes];0.83[AMR][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	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr3:138820600-138839000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138830600-138831400	Enhancers	Brain Angular Gyrus	brain
3	chr3:138830600-138831400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr3:138830800-138831400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:138830800-138833000	Enhancers	Brain Hippocampus Middle	brain
6	chr3:138831000-138831400	Enhancers	K562	blood
7	chr3:138831000-138836000	Weak transcription	HSMM	muscle
8	chr3:138831200-138831400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr3:138831200-138832200	Weak transcription	Brain Anterior Caudate	brain
10	chr3:138831200-138832200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:138831200-138835400	Weak transcription	NHDF-Ad	bronchial
12	chr3:138831200-138835600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:138831200-138836200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:138831200-138836200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:138831200-138837600	Weak transcription	Ovary	ovary
16	chr3:138831200-138838600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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

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