Variant report

Variant	rs7459906
Chromosome Location	chr8:20299563-20299564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10112289	1.00[EUR][1000 genomes]
rs1026962	1.00[EUR][1000 genomes]
rs12114223	1.00[EUR][1000 genomes]
rs17092255	1.00[EUR][1000 genomes]
rs17092285	1.00[EUR][1000 genomes]
rs17092525	1.00[EUR][1000 genomes]
rs17092648	1.00[EUR][1000 genomes]
rs4330706	1.00[EUR][1000 genomes]
rs57350066	1.00[EUR][1000 genomes]
rs58021006	1.00[EUR][1000 genomes]
rs60949054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60973888	1.00[EUR][1000 genomes]
rs6985545	1.00[EUR][1000 genomes]
rs7003050	1.00[EUR][1000 genomes]
rs7004136	1.00[EUR][1000 genomes]
rs7012806	1.00[EUR][1000 genomes]
rs7015313	1.00[EUR][1000 genomes]
rs7017244	1.00[EUR][1000 genomes]
rs7017444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018201	1.00[EUR][1000 genomes]
rs73607619	1.00[EUR][1000 genomes]
rs73607621	1.00[EUR][1000 genomes]
rs73607627	1.00[EUR][1000 genomes]
rs73607631	1.00[EUR][1000 genomes]
rs73607698	1.00[EUR][1000 genomes]
rs73609138	1.00[EUR][1000 genomes]
rs73609140	1.00[EUR][1000 genomes]
rs73609141	1.00[EUR][1000 genomes]
rs73609174	1.00[EUR][1000 genomes]
rs73617815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813418	1.00[EUR][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	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20294200-20301600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:20295000-20311000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:20295400-20305600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:20295800-20301200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:20296000-20301200	Weak transcription	Primary T cells from cord blood	blood
6	chr8:20296000-20301200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr8:20296200-20301400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:20297000-20299600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:20298400-20300400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:20298400-20300800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:20298600-20300800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:20298800-20300400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:20298800-20300800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:20298800-20301200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:20299000-20300400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr8:20299200-20300400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:20299400-20300200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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