Variant report

Variant	rs56669049
Chromosome Location	chr12:47023006-47023007
allele	C/G
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:8)

rs_ID	r²[population]
rs56838582	1.00[AFR][1000 genomes]
rs57410946	0.83[AFR][1000 genomes]
rs59321024	1.00[AFR][1000 genomes]
rs73290358	1.00[AFR][1000 genomes]
rs73290374	1.00[AFR][1000 genomes]
rs73290379	1.00[AFR][1000 genomes]
rs73291969	1.00[AFR][1000 genomes]
rs73293933	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1811918	chr12:46965257-47033254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1814000	chr12:47007493-47033254	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv692	chr12:47018472-47049495	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1848054	chr12:47018846-47033254	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47003200-47025600	Weak transcription	NHEK	skin
2	chr12:47004800-47023200	Weak transcription	Pancreas	Pancrea
3	chr12:47020200-47023200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:47021600-47023600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:47021600-47023800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:47021800-47025200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:47022000-47023200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:47022000-47023200	Weak transcription	Psoas Muscle	Psoas
9	chr12:47022000-47025200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:47022000-47025200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:47022000-47030800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:47022800-47023400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:47023000-47023200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr12:47023000-47023200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:47023000-47023400	Enhancers	Osteobl	bone
16	chr12:47023000-47023800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:47023000-47024000	Enhancers	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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