Variant report

Variant	rs12659601
Chromosome Location	chr5:41725301-41725302
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10941555	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11750571	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11958154	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12054714	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13176076	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1423240	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17213962	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35520000	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][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	esv3404444	chr5:41701527-41744979	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	esv3326078	chr5:41710992-41743453	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41722000-41736800	Weak transcription	HSMMtube	muscle
2	chr5:41723000-41735800	Weak transcription	GM12878-XiMat	blood
3	chr5:41723000-41739200	Weak transcription	Aorta	Aorta
4	chr5:41725200-41725400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:41725200-41725400	Enhancers	Right Ventricle	heart

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

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