Variant report

Variant	rs2023127
Chromosome Location	chr8:107519504-107519505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1453226	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1597923	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1614808	0.81[EUR][1000 genomes]
rs1670380	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1670381	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1670396	0.81[EUR][1000 genomes]
rs2510818	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2510819	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs921628	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv824701	chr8:107378298-107520063	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107512400-107620200	Weak transcription	Aorta	Aorta
2	chr8:107513600-107526200	Weak transcription	Brain Angular Gyrus	brain
3	chr8:107513800-107525000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:107514000-107525600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:107514600-107519600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:107514600-107519600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:107516000-107520200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:107516800-107536200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:107517400-107519600	Weak transcription	Osteobl	bone
10	chr8:107518000-107519600	Weak transcription	NHDF-Ad	bronchial
11	chr8:107518800-107520600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:107519000-107520400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:107519000-107520800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:107519200-107519600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:107519200-107520600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:107519200-107521600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:107519400-107520200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:107519400-107520400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:107519400-107520400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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