Variant report

Variant	rs6080148
Chromosome Location	chr20:16139030-16139031
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17726942	0.80[EUR][1000 genomes]
rs2327989	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4142099	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4239715	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4239716	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4814437	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4814439	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4814440	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6034400	0.83[EUR][1000 genomes]
rs6043753	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6075014	0.82[EUR][1000 genomes]
rs6075015	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6075017	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6075018	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6075019	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6080131	0.81[EUR][1000 genomes]
rs6080134	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6080147	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6080150	0.86[ASN][1000 genomes]
rs6080154	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6110922	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1059778	chr20:15999519-16165895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv544207	chr20:15999519-16165895	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv833930	chr20:16134347-16302763	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16138200-16139400	Enhancers	Stomach Mucosa	stomach
2	chr20:16138200-16139400	Enhancers	HepG2	liver
3	chr20:16138200-16139800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr20:16138200-16140200	Enhancers	Primary hematopoietic stem cells	blood
5	chr20:16138600-16139400	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr20:16138800-16140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr20:16139000-16139400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:16139000-16139400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:16139000-16139400	Flanking Active TSS	GM12878-XiMat	blood
10	chr20:16139000-16140000	Enhancers	Spleen	Spleen
11	chr20:16139000-16140200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr20:16139000-16140400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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