Variant report

Variant	rs1250658
Chromosome Location	chr12:63695158-63695159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10467073	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10878037	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10878038	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11174927	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11174934	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174940	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11174954	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174955	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174962	0.85[EUR][1000 genomes]
rs11174963	0.85[EUR][1000 genomes]
rs11174964	0.85[EUR][1000 genomes]
rs11174967	0.85[EUR][1000 genomes]
rs11174968	0.85[EUR][1000 genomes]
rs11174972	0.85[EUR][1000 genomes]
rs11174973	0.85[EUR][1000 genomes]
rs11174975	0.85[EUR][1000 genomes]
rs11174977	0.85[EUR][1000 genomes]
rs11174986	0.85[EUR][1000 genomes]
rs11175001	0.85[EUR][1000 genomes]
rs1146103	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146107	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146108	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11533671	0.85[EUR][1000 genomes]
rs11534939	0.85[EUR][1000 genomes]
rs12226978	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12229731	0.85[EUR][1000 genomes]
rs12230420	0.93[EUR][1000 genomes]
rs12230481	0.85[EUR][1000 genomes]
rs1607802	0.85[EUR][1000 genomes]
rs17099426	0.85[EUR][1000 genomes]
rs73321977	0.85[EUR][1000 genomes]
rs7342410	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7979155	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9805075	1.00[AMR][1000 genomes];0.85[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	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
8	nsv973949	chr12:63689599-63696178	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63687600-63696000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:63692600-63695600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:63692600-63695800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:63692800-63695400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:63692800-63696200	Weak transcription	Fetal Kidney	kidney
6	chr12:63695000-63696800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:63695000-63696800	Enhancers	HMEC	breast

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