Variant report

Variant	rs9913944
Chromosome Location	chr17:20822310-20822311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28658139	1.00[EUR][1000 genomes]
rs6587105	1.00[EUR][1000 genomes]
rs73313035	1.00[EUR][1000 genomes]
rs73313051	1.00[EUR][1000 genomes]
rs9890380	1.00[AFR][1000 genomes]
rs9891613	1.00[EUR][1000 genomes]
rs9902929	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9904375	1.00[EUR][1000 genomes]
rs9910047	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking 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	14 gene(s)	inside rSNPs	diseases
6	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv574597	chr17:20802778-20872331	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv527161	chr17:20814766-20872331	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv457706	chr17:20814766-20872331	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv574598	chr17:20814766-20872331	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20812200-20824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:20812600-20823200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr17:20812600-20830800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr17:20820000-20823000	Weak transcription	Osteobl	bone
5	chr17:20820000-20823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:20820000-20824000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:20820200-20822800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:20820200-20822800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:20820200-20823200	Weak transcription	NHDF-Ad	bronchial
10	chr17:20820200-20823400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr17:20820200-20823600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr17:20820200-20823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:20820200-20824200	Weak transcription	Hela-S3	cervix
14	chr17:20820200-20824200	Weak transcription	NHLF	lung
15	chr17:20820200-20827800	Weak transcription	Right Atrium	heart
16	chr17:20820400-20823800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:20820400-20825600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:20820400-20825600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:20820400-20825600	Weak transcription	NHEK	skin
20	chr17:20820400-20827200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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