Variant report

Variant	rs59321024
Chromosome Location	chr12:47026034-47026035
allele	A/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]
rs56669049	1.00[AFR][1000 genomes]
rs56838582	1.00[AFR][1000 genomes]
rs57410946	0.83[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47022000-47030800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:47023200-47028400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:47023200-47032400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:47023800-47027200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:47024000-47026800	Weak transcription	Pancreas	Pancrea
6	chr12:47024000-47027200	Weak transcription	Gastric	stomach
7	chr12:47024000-47030800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:47025000-47030800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:47025200-47026200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:47025200-47026200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:47025200-47026200	Enhancers	NHDF-Ad	bronchial
12	chr12:47025200-47026200	Enhancers	Osteobl	bone
13	chr12:47025200-47030600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:47025400-47026400	Enhancers	HepG2	liver
15	chr12:47025400-47034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:47025800-47032200	Weak transcription	NHEK	skin
17	chr12:47026000-47026400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:47026000-47030800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:47026000-47035200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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

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