Variant report

Variant	rs35182554
Chromosome Location	chr8:49663306-49663307
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3750259	0.89[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	esv2761425	chr8:49658066-49669601	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35182554	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx
rs35182554	EFCAB1	cis	Esophagus Muscularis	GTEx
rs35182554	EFCAB1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49661000-49668200	Weak transcription	Pancreas	Pancrea
2	chr8:49661400-49666000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:49661600-49666000	Weak transcription	Osteobl	bone
4	chr8:49661800-49665400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:49662400-49663600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:49662400-49663600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:49662400-49663600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:49662800-49663400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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