Variant report

Variant	rs28574852
Chromosome Location	chr14:77948414-77948415
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12893870	0.83[ASN][1000 genomes]
rs12894112	0.83[ASN][1000 genomes]
rs34099277	0.83[ASN][1000 genomes]
rs3825694	0.83[ASN][1000 genomes]
rs8004951	1.00[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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28574852	TMED8	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	chr14:77936200-77948600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:77940600-77948600	Weak transcription	Fetal Kidney	kidney
3	chr14:77942400-77949000	Weak transcription	Placenta	Placenta
4	chr14:77945000-77948800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:77945000-77951800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:77947200-77956200	Strong transcription	HepG2	liver

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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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