Variant report

Variant	rs1376760
Chromosome Location	chr8:63385983-63385984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12114937	0.80[EUR][1000 genomes]
rs12115033	0.80[EUR][1000 genomes]
rs1376765	0.81[AMR][1000 genomes]
rs1376766	0.81[AMR][1000 genomes]
rs16928991	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1993126	0.84[AMR][1000 genomes]
rs2198217	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4520152	0.80[EUR][1000 genomes]
rs4738979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59628792	0.80[EUR][1000 genomes]
rs72505477	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7819322	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019143	chr8:63142202-63390820	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1024863	chr8:63275987-63439650	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539636	chr8:63275987-63439650	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv982137	chr8:63277579-63399979	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv831339	chr8:63312449-63501127	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr8:63374000-63389600	Weak transcription	Fetal Intestine Small	intestine
2	chr8:63384200-63386200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:63384200-63386800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:63384600-63386200	Enhancers	Brain Hippocampus Middle	brain
5	chr8:63384600-63387400	Enhancers	Brain Germinal Matrix	brain
6	chr8:63385000-63389400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:63385600-63386600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:63385600-63386600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:63385600-63386800	Enhancers	Fetal Brain Female	brain
10	chr8:63385600-63387400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:63385600-63387600	Weak transcription	Brain Substantia Nigra	brain
12	chr8:63385600-63389400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:63385600-63389400	Weak transcription	Fetal Brain Male	brain
14	chr8:63385600-63390200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:63385800-63389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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