Variant report

Variant	rs11908304
Chromosome Location	chr20:1741368-1741369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11905339	0.85[AFR][1000 genomes]
rs73582710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582722	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912596	chr20:1486637-1877150	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1057036	chr20:1493425-1869281	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv912597	chr20:1500506-1877150	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv833894	chr20:1519433-1753366	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv531473	chr20:1532476-1864506	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1738600-1741600	Weak transcription	Hela-S3	cervix
2	chr20:1739200-1745000	Weak transcription	Brain Anterior Caudate	brain
3	chr20:1739200-1747600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr20:1739400-1745000	Weak transcription	Brain Angular Gyrus	brain
5	chr20:1739400-1747600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr20:1739600-1741600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:1739600-1744800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr20:1739600-1745000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr20:1739600-1745400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr20:1740200-1742200	Enhancers	Liver	Liver
11	chr20:1740200-1745000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr20:1740400-1742800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:1740600-1741800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:1740800-1741800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:1740800-1745000	Weak transcription	Fetal Intestine Large	intestine
16	chr20:1741000-1741400	Weak transcription	HSMMtube	muscle
17	chr20:1741000-1757200	Weak transcription	Fetal Intestine Small	intestine
18	chr20:1741200-1742600	Enhancers	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
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