Variant report

Variant	rs3888050
Chromosome Location	chr12:64217139-64217140
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4072758	0.85[AFR][1000 genomes]
rs55655348	0.85[AFR][1000 genomes]
rs59063572	0.81[AFR][1000 genomes]
rs7307108	0.85[AFR][1000 genomes]
rs7310329	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv746	chr12:64189444-64234966	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv976635	chr12:64215811-64218681	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64216000-64217200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:64216000-64217400	Weak transcription	Pancreas	Pancrea
3	chr12:64216000-64224200	Weak transcription	Aorta	Aorta
4	chr12:64216200-64217600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:64216200-64219600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:64216200-64237000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:64216400-64217400	Flanking Active TSS	HepG2	liver
8	chr12:64216400-64219200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:64216400-64219800	Weak transcription	Fetal Kidney	kidney
10	chr12:64216400-64220200	Weak transcription	Fetal Lung	lung
11	chr12:64216600-64217200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:64216600-64217400	Enhancers	NHLF	lung
13	chr12:64216600-64217600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:64216600-64219600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:64216600-64219600	Weak transcription	Osteobl	bone
16	chr12:64216800-64217200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:64216800-64217400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:64217000-64217200	Enhancers	Lung	lung
19	chr12:64217000-64219600	Weak transcription	NHDF-Ad	bronchial

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

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