Variant report

Variant	rs1383038
Chromosome Location	chr8:90326030-90326031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1011271	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11785662	0.83[AMR][1000 genomes]
rs1383037	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4266696	0.83[AMR][1000 genomes]
rs4960969	0.82[ASN][1000 genomes]
rs58699294	0.82[ASN][1000 genomes]
rs7012184	0.82[ASN][1000 genomes]
rs7014069	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1024956	chr8:90104423-90459539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv539671	chr8:90104423-90459539	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032886	chr8:90253748-90398240	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	nsv891178	chr8:90289326-90337010	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv891179	chr8:90307652-90335826	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv2757280	chr8:90321647-90338278	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	esv2759627	chr8:90321647-90338278	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90323400-90326600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:90323400-90327600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:90324600-90327200	Enhancers	HUVEC	blood vessel
4	chr8:90324800-90326600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:90324800-90326600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:90324800-90326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:90324800-90327000	Enhancers	NHEK	skin
8	chr8:90325000-90326400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:90325000-90326600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:90325200-90326600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:90325600-90326600	Enhancers	NH-A	brain
12	chr8:90326000-90326600	Weak transcription	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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