Variant report

Variant	rs475046
Chromosome Location	chr12:63814911-63814912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1144042	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1144205	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1251431	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1251985	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1251986	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1303184	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1303205	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1581098	0.85[AMR][1000 genomes]
rs1607805	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1733676	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1976820	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs474527	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs474660	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs482779	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs489614	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs501065	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs518961	0.82[AMR][1000 genomes]
rs521964	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs534038	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs534927	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs545697	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs551668	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs556989	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs575689	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs786850	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805034	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs878450	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
7	nsv1044694	chr12:63746069-63920831	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2422401	chr12:63778527-64017057	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv899167	chr12:63795229-63906892	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv976722	chr12:63812539-63827029	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63809600-63822800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:63813400-63815000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:63813600-63815000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:63813800-63815000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:63814600-63815400	Weak transcription	Fetal Heart	heart

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