Variant report

Variant	rs1247637
Chromosome Location	chr4:74548538-74548539
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1247606	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247614	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247615	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247616	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247631	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1269765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1745249	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs942055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr4:74543000-74549800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:74546000-74549800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:74546000-74555600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:74546200-74549600	Weak transcription	NHDF-Ad	bronchial
5	chr4:74546200-74550600	Weak transcription	Osteobl	bone
6	chr4:74547600-74549400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:74547600-74550000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:74547600-74551000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:74547800-74548600	Enhancers	A549	lung
10	chr4:74548000-74549600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr4:74548000-74550200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:74548200-74550200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:74548200-74550200	Enhancers	HMEC	breast
14	chr4:74548400-74548600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:74548400-74548600	Enhancers	NHEK	skin
16	chr4:74548400-74548800	Enhancers	Stomach Mucosa	stomach
17	chr4:74548400-74549400	Enhancers	Hela-S3	cervix
18	chr4:74548400-74550000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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

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