Variant report

Variant	rs7974381
Chromosome Location	chr12:20754671-20754672
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]
rs11045320	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4287373	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6487113	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7133190	0.85[AFR][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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr12:20710400-20754800	Weak transcription	Fetal Intestine Large	intestine
2	chr12:20743600-20756000	Weak transcription	Left Ventricle	heart
3	chr12:20751800-20756000	Enhancers	A549	lung
4	chr12:20752200-20756000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:20752200-20766200	Weak transcription	Aorta	Aorta
6	chr12:20753000-20755600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:20753200-20754800	Weak transcription	Osteobl	bone
8	chr12:20753400-20754800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:20753600-20755600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:20753600-20756200	Enhancers	Brain Hippocampus Middle	brain
11	chr12:20753800-20756200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:20754000-20756800	Enhancers	NHDF-Ad	bronchial
13	chr12:20754000-20766200	Weak transcription	Hela-S3	cervix
14	chr12:20754200-20756800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:20754200-20766200	Weak transcription	Right Ventricle	heart
16	chr12:20754400-20754800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:20754400-20755800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr12:20754400-20757800	Weak transcription	Colon Smooth Muscle	Colon

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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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