Variant report

Variant	rs12529594
Chromosome Location	chr6:144566439-144566440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1322450	0.84[EUR][1000 genomes]
rs1322451	0.83[EUR][1000 genomes]
rs1547622	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1985845	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4896708	0.88[ASN][1000 genomes]
rs6930813	0.87[ASN][1000 genomes]
rs7741762	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7750035	0.82[EUR][1000 genomes]
rs7763017	0.84[EUR][1000 genomes]
rs7770125	0.85[ASN][1000 genomes]
rs9376813	0.83[ASN][1000 genomes]
rs9390159	0.83[EUR][1000 genomes]
rs9399474	0.94[EUR][1000 genomes]
rs9403554	0.90[ASN][1000 genomes]
rs9403555	0.91[ASN][1000 genomes]
rs9403556	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9403557	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144566000-144566600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:144566000-144567000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:144566200-144567000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:144566400-144567000	Weak transcription	Right Ventricle	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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