Variant report

Variant	rs16959630
Chromosome Location	chr17:16277578-16277579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16276108..16277617-chr17:16343748..16346155,2	K562	blood:
2	chr17:16275481..16279634-chr17:16282996..16288027,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266651	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000265401	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11650283	0.95[CHD][hapmap];0.88[JPT][hapmap]
rs11653585	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11654658	1.00[CHD][hapmap]
rs11656811	1.00[CHD][hapmap]
rs11868284	1.00[CHD][hapmap]
rs1476810	0.88[JPT][hapmap]
rs15739	1.00[CHD][hapmap];0.88[JPT][hapmap]
rs2109262	1.00[CHD][hapmap]
rs3785626	1.00[CHD][hapmap]
rs4792728	1.00[CHD][hapmap]
rs4792731	1.00[CHD][hapmap]
rs55861262	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56952590	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57553302	1.00[EUR][1000 genomes]
rs62074191	0.84[ASN][1000 genomes]
rs62074192	0.84[ASN][1000 genomes]
rs8074246	0.84[ASN][1000 genomes]
rs9907261	0.81[ASN][1000 genomes]
rs9908541	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9944524	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv827903	chr17:16251979-16283760	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
10	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
11	nsv978556	chr17:16268432-16302479	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16257200-16283800	Weak transcription	Right Atrium	heart
2	chr17:16267600-16282000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:16275000-16278800	Enhancers	Hela-S3	cervix
4	chr17:16275400-16281000	Weak transcription	A549	lung
5	chr17:16275600-16283600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:16276600-16278200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:16276600-16278400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:16276600-16278400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:16276600-16281400	Weak transcription	NHLF	lung
10	chr17:16276600-16282000	Weak transcription	Placenta	Placenta
11	chr17:16276800-16278000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr17:16276800-16278200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:16276800-16278400	Enhancers	Adipose Nuclei	Adipose
14	chr17:16277000-16277600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr17:16277000-16278000	Enhancers	Fetal Lung	lung
16	chr17:16277000-16278000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr17:16277000-16279000	Enhancers	Fetal Intestine Small	intestine
18	chr17:16277200-16278400	Enhancers	Fetal Heart	heart
19	chr17:16277200-16280800	Weak transcription	Stomach Mucosa	stomach
20	chr17:16277400-16277800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:16277400-16278200	Enhancers	Osteobl	bone

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