Variant report

Variant	rs6472435
Chromosome Location	chr8:69911977-69911978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10096502	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10957456	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12544142	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12680675	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1343725	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2912525	0.86[ASN][1000 genomes]
rs2981069	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2981071	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4349991	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5015160	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6985889	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7463837	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv33049	chr8:69836813-69943360	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:69879600-69917200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:69906400-69928400	Weak transcription	HSMM	muscle
3	chr8:69908600-69920400	Weak transcription	Osteobl	bone
4	chr8:69908800-69915600	Weak transcription	Muscle Satellite Cultured Cells	--

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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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