Variant report

Variant	rs10004865
Chromosome Location	chr4:120666273-120666274
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11723555	0.81[EUR][1000 genomes]
rs13119468	0.81[EUR][1000 genomes]
rs17296659	0.81[EUR][1000 genomes]
rs2389901	0.88[AFR][1000 genomes]
rs2389960	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2583599	0.82[EUR][1000 genomes]
rs28378775	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28587671	0.81[EUR][1000 genomes]
rs72680968	1.00[ASN][1000 genomes]
rs72680972	1.00[ASN][1000 genomes]
rs72680973	1.00[ASN][1000 genomes]
rs72680975	1.00[ASN][1000 genomes]
rs72680980	1.00[ASN][1000 genomes]
rs72680982	1.00[ASN][1000 genomes]
rs72680985	1.00[ASN][1000 genomes]
rs72680987	0.97[ASN][1000 genomes]
rs72680989	0.97[ASN][1000 genomes]
rs72680990	0.97[ASN][1000 genomes]
rs72681002	0.90[ASN][1000 genomes]
rs72682804	0.87[ASN][1000 genomes]
rs72682805	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1802546	chr4:120558608-120675026	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1010638	chr4:120586178-120671835	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120658000-120670000	Weak transcription	Psoas Muscle	Psoas
2	chr4:120658000-120670200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:120658200-120668000	Weak transcription	NHLF	lung
4	chr4:120659600-120668000	Weak transcription	Aorta	Aorta
5	chr4:120661400-120669200	Weak transcription	Fetal Lung	lung
6	chr4:120661800-120669800	Weak transcription	Fetal Stomach	stomach
7	chr4:120665800-120668400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:120666000-120666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:120666000-120666600	Weak transcription	NHDF-Ad	bronchial
10	chr4:120666000-120667600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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