Variant report

Variant	rs74064915
Chromosome Location	chr12:20657816-20657817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4129176	1.00[AMR][1000 genomes]
rs55716363	0.80[AFR][1000 genomes]
rs58561346	1.00[AMR][1000 genomes]
rs7302500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74066460	0.83[AFR][1000 genomes]
rs74066462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74066465	1.00[AMR][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	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	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 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	chr12:20642400-20660000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:20645600-20658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:20647000-20660600	Weak transcription	Left Ventricle	heart
4	chr12:20647200-20664000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:20648200-20660800	Weak transcription	Aorta	Aorta
6	chr12:20649600-20660600	Weak transcription	Right Ventricle	heart
7	chr12:20649600-20662000	Weak transcription	Pancreas	Pancrea
8	chr12:20652800-20660200	Weak transcription	HUVEC	blood vessel
9	chr12:20656800-20658400	Genic enhancers	Hela-S3	cervix
10	chr12:20656800-20658600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:20656800-20658600	Enhancers	Osteobl	bone
12	chr12:20656800-20658800	Enhancers	NHDF-Ad	bronchial
13	chr12:20656800-20660600	Enhancers	A549	lung
14	chr12:20657000-20658600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:20657000-20658600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:20657000-20659400	Enhancers	Colon Smooth Muscle	Colon
17	chr12:20657800-20658600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:20657800-20658600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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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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