Variant report

Variant	rs17092307
Chromosome Location	chr8:20263400-20263401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12674725	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12676527	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677988	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12678393	0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12678584	0.80[AMR][1000 genomes]
rs12679126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12679606	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12681762	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17092264	1.00[EUR][1000 genomes]
rs17092273	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17092286	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17092289	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17092302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092313	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17092316	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17092317	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17092318	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17092321	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17092324	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17092331	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17092333	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17092335	0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17092342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086883	1.00[EUR][1000 genomes]
rs57266128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59651278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60034868	0.80[AMR][1000 genomes]
rs60236973	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6989224	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7825428	1.00[EUR][1000 genomes]
rs7838039	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1799175	chr8:20258303-20270849	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20261000-20263600	Enhancers	Fetal Kidney	kidney
2	chr8:20262200-20263600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:20262200-20264000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:20262400-20263400	Enhancers	Fetal Brain Male	brain
5	chr8:20262400-20263800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:20262600-20263800	Enhancers	Fetal Lung	lung
7	chr8:20262800-20263400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:20262800-20263800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:20263000-20263400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:20263000-20263600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:20263000-20263800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:20263000-20263800	Enhancers	Spleen	Spleen
13	chr8:20263000-20264000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:20263200-20263400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:20263200-20263400	Enhancers	Brain Germinal Matrix	brain
16	chr8:20263200-20263600	Enhancers	Fetal Brain Female	brain
17	chr8:20263400-20263600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr8:20263400-20263600	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr8:20263400-20263800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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