Variant report

Variant	rs17011348
Chromosome Location	chr4:127551712-127551713
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:10)

rs_ID	r²[population]
rs1397671	0.82[ASN][1000 genomes]
rs17011332	0.82[ASN][1000 genomes]
rs17011337	0.82[ASN][1000 genomes]
rs2054981	0.81[ASN][1000 genomes]
rs447507	0.82[ASN][1000 genomes]
rs57594926	0.85[ASN][1000 genomes]
rs72921443	0.81[ASN][1000 genomes]
rs72921457	0.82[ASN][1000 genomes]
rs72921459	0.82[ASN][1000 genomes]
rs72921462	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127549000-127553000	Weak transcription	K562	blood
2	chr4:127551200-127551800	Enhancers	Colon Smooth Muscle	Colon
3	chr4:127551400-127551800	Enhancers	Brain Hippocampus Middle	brain
4	chr4:127551400-127551800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr4:127551400-127551800	Flanking Active TSS	Fetal Stomach	stomach
6	chr4:127551400-127551800	Active TSS	Stomach Smooth Muscle	stomach
7	chr4:127551400-127552200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:127551400-127552200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:127551400-127552200	Enhancers	Rectal Smooth Muscle	rectum
10	chr4:127551400-127552200	Enhancers	Right Ventricle	heart
11	chr4:127551600-127551800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:127551600-127551800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:127551600-127551800	Flanking Active TSS	Fetal Heart	heart
14	chr4:127551600-127551800	Flanking Active TSS	Fetal Lung	lung
15	chr4:127551600-127552200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:127551600-127552200	Flanking Active TSS	NHDF-Ad	bronchial

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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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