Variant report

Variant	rs58509923
Chromosome Location	chr8:105551064-105551065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11997039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61491060	1.00[AMR][1000 genomes]
rs6984745	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6998025	0.90[AFR][1000 genomes]
rs73697448	1.00[AMR][1000 genomes]
rs73697472	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7825427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:105533200-105551400	Weak transcription	HSMM	muscle
3	chr8:105540000-105562000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:105542800-105558600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:105542800-105565400	Weak transcription	Left Ventricle	heart
6	chr8:105545200-105554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:105545200-105565600	Weak transcription	Aorta	Aorta
8	chr8:105549600-105551600	Enhancers	Dnd41	blood
9	chr8:105549600-105554800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:105549800-105554400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:105550400-105552400	Weak transcription	Right Ventricle	heart
12	chr8:105550400-105555400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:105550800-105552400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:105551000-105552800	Enhancers	K562	blood
15	chr8:105551000-105556400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:105551000-105565200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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

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