Variant report

Variant	rs996665
Chromosome Location	chr11:83961440-83961441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10792740	0.83[CEU][hapmap]
rs10792741	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs11233969	1.00[CHD][hapmap]
rs11820047	1.00[CHD][hapmap]
rs12793913	1.00[CHD][hapmap]
rs12801228	1.00[CHD][hapmap]
rs12808232	1.00[CHD][hapmap]
rs1515090	1.00[CHD][hapmap]
rs1515094	1.00[CEU][hapmap]
rs17146978	1.00[CHD][hapmap]
rs1840249	0.90[EUR][1000 genomes]
rs4561234	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs6592167	1.00[CHD][hapmap]
rs7112175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7115103	1.00[CHD][hapmap]
rs7931375	1.00[CHD][hapmap]
rs963051	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039924	chr11:83662904-83993497	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv541102	chr11:83662904-83993497	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv415	chr11:83924941-83969603	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83959200-83963200	Weak transcription	Brain Germinal Matrix	brain
2	chr11:83959400-83961800	Weak transcription	Brain Substantia Nigra	brain
3	chr11:83959600-83965000	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:83960200-83961600	Enhancers	GM12878-XiMat	blood
5	chr11:83960200-83962400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:83960400-83962200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:83960800-83961800	Genic enhancers	Brain Anterior Caudate	brain
8	chr11:83961000-83961600	Enhancers	Right Atrium	heart
9	chr11:83961200-83961800	Genic enhancers	Brain Cingulate Gyrus	brain
10	chr11:83961200-83961800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:83961200-83963200	Weak transcription	Ovary	ovary
12	chr11:83961200-83964800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:83961400-83961800	Flanking Active TSS	Liver	Liver
14	chr11:83961400-83961800	Genic enhancers	Brain Angular Gyrus	brain
15	chr11:83961400-83961800	Genic enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:83961400-83962400	Enhancers	HepG2	liver
17	chr11:83961400-83964200	Weak transcription	Aorta	Aorta

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

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