Variant report

Variant	rs2478317
Chromosome Location	chr13:48100269-48100270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1326480	0.95[ASN][1000 genomes]
rs1359664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547654	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571064	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1575895	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17070281	0.95[ASN][1000 genomes]
rs2248109	0.92[AFR][1000 genomes]
rs2478310	0.95[ASN][1000 genomes]
rs2478311	0.95[ASN][1000 genomes]
rs2478313	0.95[ASN][1000 genomes]
rs2478334	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2478335	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478336	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478338	0.90[ASN][1000 genomes]
rs2478339	0.95[ASN][1000 genomes]
rs2478340	0.95[ASN][1000 genomes]
rs2478341	0.95[ASN][1000 genomes]
rs2503428	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2503429	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2503430	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2503443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503448	0.95[ASN][1000 genomes]
rs2503449	0.95[ASN][1000 genomes]
rs2503450	0.95[ASN][1000 genomes]
rs2503451	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503452	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503453	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503454	0.95[ASN][1000 genomes]
rs55857069	0.95[EUR][1000 genomes]
rs56088519	0.91[EUR][1000 genomes]
rs56234161	0.91[EUR][1000 genomes]
rs73180381	0.95[EUR][1000 genomes]
rs73180389	0.95[EUR][1000 genomes]
rs73182280	0.95[EUR][1000 genomes]
rs73182288	0.95[EUR][1000 genomes]
rs73182301	0.95[EUR][1000 genomes]
rs73183803	0.95[EUR][1000 genomes]
rs73183804	0.95[EUR][1000 genomes]
rs73183808	0.95[EUR][1000 genomes]
rs73183809	0.95[EUR][1000 genomes]
rs73183810	0.95[EUR][1000 genomes]
rs73183814	0.95[EUR][1000 genomes]
rs73183816	0.95[EUR][1000 genomes]
rs73183821	0.95[EUR][1000 genomes]
rs73183822	0.95[EUR][1000 genomes]
rs73183824	0.95[EUR][1000 genomes]
rs73183826	0.95[EUR][1000 genomes]
rs73183827	0.95[EUR][1000 genomes]
rs73183828	0.95[EUR][1000 genomes]
rs73183829	0.95[EUR][1000 genomes]
rs73183830	0.95[EUR][1000 genomes]
rs73183831	0.95[EUR][1000 genomes]
rs73183832	0.95[EUR][1000 genomes]
rs73183833	0.95[EUR][1000 genomes]
rs73183834	0.95[EUR][1000 genomes]
rs73183835	0.95[EUR][1000 genomes]
rs73183836	0.95[EUR][1000 genomes]
rs73183837	0.95[EUR][1000 genomes]
rs73183838	0.95[EUR][1000 genomes]
rs73183840	0.95[EUR][1000 genomes]
rs73183841	0.95[EUR][1000 genomes]
rs73183844	0.84[EUR][1000 genomes]
rs73183846	0.95[EUR][1000 genomes]
rs73183848	0.95[EUR][1000 genomes]
rs73183849	0.95[EUR][1000 genomes]
rs73183850	0.95[EUR][1000 genomes]
rs73183851	0.90[EUR][1000 genomes]
rs73183852	0.95[EUR][1000 genomes]
rs73183853	0.95[EUR][1000 genomes]
rs73183854	0.87[EUR][1000 genomes]
rs73183856	0.95[EUR][1000 genomes]
rs73183857	0.80[EUR][1000 genomes]
rs73183859	0.95[EUR][1000 genomes]
rs73183860	0.95[EUR][1000 genomes]
rs73183862	0.95[EUR][1000 genomes]
rs73183864	0.95[EUR][1000 genomes]
rs7993497	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3450125	chr13:47919050-48236684	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv455879	chr13:47919611-48190106	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv561588	chr13:47943829-48190106	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1043543	chr13:48079517-48104782	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1041047	chr13:48081565-48104782	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1039986	chr13:48081565-48119960	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1043240	chr13:48082916-48119960	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1043473	chr13:48085526-48119960	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48098400-48101000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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