Variant report

Variant	rs12435130
Chromosome Location	chr14:78935400-78935401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1003364	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10129570	1.00[CEU][hapmap]
rs10134028	1.00[CEU][hapmap]
rs10134094	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10136661	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10140699	1.00[CEU][hapmap]
rs11851070	1.00[CEU][hapmap]
rs12434281	1.00[CEU][hapmap]
rs12435691	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12436458	1.00[CEU][hapmap]
rs12892860	1.00[CEU][hapmap]
rs17107429	0.87[CEU][hapmap]
rs17107446	0.87[CEU][hapmap]
rs17107646	1.00[CHB][hapmap]
rs17107684	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17107725	1.00[CEU][hapmap]
rs17107794	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17107847	0.85[CEU][hapmap]
rs2110422	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2110423	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs214016	0.85[CEU][hapmap]
rs214030	0.87[CEU][hapmap]
rs2192416	1.00[CEU][hapmap]
rs2366098	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4903764	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6574445	1.00[CHB][hapmap]
rs7147592	1.00[CEU][hapmap]
rs7152492	1.00[CEU][hapmap]
rs717109	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs717110	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73316485	1.00[EUR][1000 genomes]
rs73316486	1.00[EUR][1000 genomes]
rs73316494	1.00[EUR][1000 genomes]
rs73316497	1.00[EUR][1000 genomes]
rs73316501	1.00[EUR][1000 genomes]
rs73324436	0.91[EUR][1000 genomes]
rs73324463	0.85[EUR][1000 genomes]
rs8005130	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8009240	0.85[CEU][hapmap]
rs8016031	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9323666	1.00[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832837	chr14:78766805-78946526	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr14:78935200-78935600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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