Variant report

Variant	rs1146108
Chromosome Location	chr12:63697107-63697108
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10467073	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10878037	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10878038	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10878044	0.81[ASN][1000 genomes]
rs11174927	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174934	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174957	1.00[AMR][1000 genomes]
rs11174960	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11174962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174964	1.00[EUR][1000 genomes]
rs11174967	1.00[EUR][1000 genomes]
rs11174968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174974	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11174975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11175001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146103	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1146107	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11533671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11534939	1.00[EUR][1000 genomes]
rs12226978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12229731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12230420	0.92[EUR][1000 genomes]
rs12230481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1250658	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1607802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17099426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73321977	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7342410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7979155	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9805075	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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1035736	chr12:63526274-63920372	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541510	chr12:63526274-63920372	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1052866	chr12:63562442-63879794	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541511	chr12:63562442-63879794	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832438	chr12:63571652-63745827	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv832439	chr12:63688083-63865226	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63695200-63697200	Enhancers	NH-A	brain
2	chr12:63695600-63697800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:63695800-63697200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:63695800-63697200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:63696000-63697200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:63696000-63697400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:63696000-63697600	Flanking Active TSS	Dnd41	blood
8	chr12:63696200-63697600	Enhancers	Fetal Kidney	kidney
9	chr12:63696600-63698600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:63696600-63698800	Weak transcription	NHDF-Ad	bronchial
11	chr12:63696600-63702400	Weak transcription	Aorta	Aorta
12	chr12:63696800-63698600	Weak transcription	HMEC	breast
13	chr12:63696800-63698800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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