Variant report

Variant	rs2593391
Chromosome Location	chr9:17521173-17521174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1022715	0.83[EUR][1000 genomes]
rs1555420	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1885168	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2145661	0.94[EUR][1000 genomes]
rs2180903	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2208504	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2208505	0.83[EUR][1000 genomes]
rs2224456	0.83[EUR][1000 genomes]
rs2248131	1.00[CEU][hapmap]
rs2441988	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2441989	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2441990	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2442006	1.00[CEU][hapmap]
rs2499056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs2499060	0.94[EUR][1000 genomes]
rs2593349	0.83[EUR][1000 genomes]
rs2593351	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2754312	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2754313	1.00[CEU][hapmap]
rs2754314	0.83[EUR][1000 genomes]
rs2754319	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2754323	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2754339	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2754340	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv892668	chr9:17371690-17532840	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892671	chr9:17378776-17610211	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv2422265	chr9:17396711-17598187	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv613700	chr9:17506782-17554647	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17519400-17521200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:17519600-17521800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:17519800-17521400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:17519800-17521600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:17519800-17521600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:17519800-17521800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr9:17520000-17521600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:17520400-17521600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:17520400-17521600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr9:17520400-17522400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:17520600-17521400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:17520600-17521400	Enhancers	Pancreatic Islets	Pancreatic Islet

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