Variant report

Variant	rs1915542
Chromosome Location	chr8:119605433-119605434
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1915541	0.81[CHB][hapmap]
rs2514582	0.84[EUR][1000 genomes]
rs2514587	0.82[EUR][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	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1915542		cis	Lymphoblastoid	GTEx
rs1915542	SAMD12	cis	Lymphoblastoid	GTEx
rs1915542	SAMD12	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119600200-119610600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:119600600-119622600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:119604600-119605600	Enhancers	Duodenum Mucosa	Duodenum
4	chr8:119604600-119605600	Enhancers	GM12878-XiMat	blood
5	chr8:119604600-119605800	Enhancers	Fetal Intestine Small	intestine
6	chr8:119605000-119605600	Enhancers	HSMMtube	muscle

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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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