Variant report

Variant	rs12501630
Chromosome Location	chr4:8326356-8326357
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8326199..8328705-chr4:8337836..8339581,2	K562	blood:

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

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

rs_ID	r²[population]
rs11726498	0.88[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs11730196	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12500987	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502535	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13111624	0.95[ASN][1000 genomes]
rs13114241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115325	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13142816	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1474314	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548214	0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs1678312	0.89[ASN][1000 genomes]
rs1966978	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2046027	0.86[ASN][1000 genomes]
rs2046028	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35432937	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3947755	0.86[ASN][1000 genomes]
rs4413391	0.86[ASN][1000 genomes]
rs6830628	0.87[ASN][1000 genomes]
rs754740	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs827022	0.83[ASN][1000 genomes]
rs9986018	0.86[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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8322200-8326400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:8322800-8326600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:8323200-8331200	Weak transcription	Fetal Heart	heart
4	chr4:8325000-8326400	ZNF genes & repeats	Fetal Muscle Leg	muscle
5	chr4:8325600-8327000	Enhancers	HMEC	breast
6	chr4:8325600-8328000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:8325600-8338400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:8325800-8326400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:8325800-8327600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:8325800-8327800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:8325800-8327800	ZNF genes & repeats	Fetal Stomach	stomach
12	chr4:8325800-8327800	Enhancers	Right Ventricle	heart
13	chr4:8325800-8328200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:8326000-8326800	Enhancers	Right Atrium	heart
15	chr4:8326000-8327000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:8326000-8327400	Enhancers	Esophagus	oesophagus
17	chr4:8326000-8327400	Enhancers	Left Ventricle	heart
18	chr4:8326000-8327800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:8326000-8327800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:8326000-8327800	Enhancers	NHEK	skin
21	chr4:8326200-8326400	Enhancers	Spleen	Spleen
22	chr4:8326200-8326800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:8326200-8327200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:8326200-8327800	Enhancers	Osteobl	bone

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