Variant report

Variant	rs20494
Chromosome Location	chr11:119957453-119957454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10160467	0.84[EUR][1000 genomes]
rs10466596	1.00[CHD][hapmap]
rs10892537	0.81[EUR][1000 genomes]
rs11217682	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12276260	0.81[AFR][1000 genomes]
rs12276427	0.84[AFR][1000 genomes]
rs12365185	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6589797	0.82[EUR][1000 genomes]
rs7102643	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7118773	0.84[EUR][1000 genomes]
rs7128133	1.00[CHD][hapmap]
rs7949366	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119955400-119961000	Weak transcription	Esophagus	oesophagus
2	chr11:119956400-119959200	Enhancers	Brain Angular Gyrus	brain
3	chr11:119956400-119959400	Enhancers	Brain Anterior Caudate	brain
4	chr11:119956400-119959400	Enhancers	Brain Hippocampus Middle	brain
5	chr11:119956400-119959400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr11:119956400-119959400	Enhancers	Brain Substantia Nigra	brain
7	chr11:119956400-119959800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:119956400-119962800	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:119956600-119957600	Enhancers	Fetal Brain Male	brain
10	chr11:119956800-119957600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:119957000-119958000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:119957200-119958600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:119957400-119957800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:119957400-119958000	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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