Variant report

Variant	rs6113992
Chromosome Location	chr20:23189628-23189629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23180782..23182510-chr20:23188143..23190298,2	MCF-7	breast:
2	chr20:23030571..23033059-chr20:23188435..23191076,2	MCF-7	breast:
3	chr20:23187473..23190139-chr20:23328538..23331366,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1005856	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1099456	0.83[AMR][1000 genomes]
rs11696272	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11896	0.94[ASN][1000 genomes]
rs1338943	0.91[ASN][1000 genomes]
rs1538445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1538446	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1856470	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2024897	0.87[AMR][1000 genomes]
rs4813483	0.91[ASN][1000 genomes]
rs6036338	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6048590	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6048591	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6048592	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6048595	0.81[CEU][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6048612	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6048615	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6048618	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6048619	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6076035	0.95[ASN][1000 genomes]
rs6076038	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6076039	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6076040	0.96[ASN][1000 genomes]
rs6083030	0.81[CEU][hapmap];0.90[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6083031	0.94[ASN][1000 genomes]
rs6083032	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6083033	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6083036	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6083038	0.81[CEU][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6083043	0.81[CEU][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6083044	0.99[ASN][1000 genomes]
rs6083047	0.98[ASN][1000 genomes]
rs6083050	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs6106615	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs6106616	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6106617	0.93[ASN][1000 genomes]
rs6106619	0.92[ASN][1000 genomes]
rs6114001	0.96[ASN][1000 genomes]
rs6114004	0.93[ASN][1000 genomes]
rs6132573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6132576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132577	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6132578	0.80[AMR][1000 genomes]
rs6132579	0.85[AMR][1000 genomes]
rs6132580	0.81[ASN][1000 genomes]
rs62206882	0.82[AMR][1000 genomes]
rs62206883	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs750652	0.83[AMR][1000 genomes]
rs750653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8118328	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs844924	0.84[AMR][1000 genomes]
rs844929	0.80[AMR][1000 genomes]
rs844932	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs844934	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs844935	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844936	0.80[AMR][1000 genomes]
rs844937	0.80[CEU][hapmap];0.83[AMR][1000 genomes]
rs844938	0.83[AMR][1000 genomes]
rs844939	0.81[CEU][hapmap];0.83[AMR][1000 genomes]
rs844940	0.83[AMR][1000 genomes]
rs844941	0.87[AMR][1000 genomes]
rs844942	0.81[CEU][hapmap];0.85[AMR][1000 genomes]
rs867909	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs870225	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1066734	chr20:23170094-23277628	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6113992	ABHD12	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23186600-23192200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr20:23187000-23190400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr20:23187000-23192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr20:23187200-23191600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:23187600-23192600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:23188400-23190600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:23188800-23192600	Weak transcription	Placenta	Placenta
8	chr20:23188800-23193200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:23189000-23192600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:23189000-23192600	Weak transcription	Fetal Muscle Leg	muscle
11	chr20:23189000-23192600	Weak transcription	NHDF-Ad	bronchial
12	chr20:23189600-23190800	Enhancers	K562	blood

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