Variant report

Variant	rs60782547
Chromosome Location	chr5:114729071-114729072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs58474151	0.87[AFR][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr5:114725800-114730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:114726200-114729600	Weak transcription	Gastric	stomach
3	chr5:114727600-114730000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:114727800-114729200	Enhancers	Fetal Muscle Leg	muscle
5	chr5:114727800-114729200	Weak transcription	Pancreas	Pancrea
6	chr5:114727800-114729400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:114728200-114729400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:114728200-114729400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:114728200-114730000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:114728400-114729400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:114728400-114729600	Enhancers	NHLF	lung
12	chr5:114728400-114731200	Enhancers	Stomach Mucosa	stomach
13	chr5:114728800-114730000	Enhancers	NHDF-Ad	bronchial
14	chr5:114729000-114729200	Enhancers	Right Atrium	heart
15	chr5:114729000-114729400	Enhancers	Left Ventricle	heart
16	chr5:114729000-114729800	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr5:114729000-114729800	Enhancers	Right Ventricle	heart
18	chr5:114729000-114730000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:114729000-114731800	Weak transcription	Osteobl	bone

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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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