Variant report

Variant	rs4595153
Chromosome Location	chr8:120558950-120558951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11985985	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11991384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892739	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892741	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892742	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892745	0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892746	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892751	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892771	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41408746	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41524345	0.91[AFR][1000 genomes];1.00[AMR][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120557200-120565400	Weak transcription	Osteobl	bone
2	chr8:120557400-120560000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:120557800-120559400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:120557800-120559400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:120558000-120559600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:120558200-120564200	Weak transcription	NHDF-Ad	bronchial
7	chr8:120558400-120559400	Enhancers	Brain Substantia Nigra	brain
8	chr8:120558400-120565800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:120558600-120559200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr8:120558600-120559400	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:120558600-120559400	Enhancers	HSMMtube	muscle
12	chr8:120558600-120559600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:120558800-120559200	Enhancers	Adipose Nuclei	Adipose
14	chr8:120558800-120559200	Enhancers	Brain Hippocampus Middle	brain
15	chr8:120558800-120560000	Enhancers	Fetal Lung	lung

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

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