Variant report

Variant	rs444694
Chromosome Location	chr19:44309076-44309077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10401526	0.85[ASN][1000 genomes]
rs10402032	0.85[ASN][1000 genomes]
rs364691	0.95[ASN][1000 genomes]
rs365785	0.95[ASN][1000 genomes]
rs436031	0.92[ASN][1000 genomes]
rs492099	0.88[ASN][1000 genomes]
rs531471	0.88[ASN][1000 genomes]
rs8100565	0.92[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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs444694	AC115522.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44304600-44310200	Weak transcription	HMEC	breast
2	chr19:44304600-44310200	Weak transcription	NHEK	skin
3	chr19:44308800-44309200	Enhancers	Brain Hippocampus Middle	brain
4	chr19:44308800-44309200	Flanking Active TSS	K562	blood
5	chr19:44309000-44309200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:44309000-44309200	Enhancers	Spleen	Spleen

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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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