Variant report

Variant	rs12593575
Chromosome Location	chr15:78390909-78390910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11856417	0.81[CHD][hapmap]
rs16953973	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs3784326	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs6495272	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12593575	C15orf34	cis	parietal	SCAN
rs12593575	SGK269	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78385200-78400600	Weak transcription	Pancreas	Pancrea
2	chr15:78385600-78395400	Weak transcription	Spleen	Spleen
3	chr15:78386200-78396000	Weak transcription	Gastric	stomach
4	chr15:78386400-78393400	Weak transcription	Fetal Thymus	thymus
5	chr15:78386600-78396400	Weak transcription	Fetal Lung	lung
6	chr15:78386800-78396000	Weak transcription	Right Atrium	heart
7	chr15:78387000-78395400	Weak transcription	Fetal Stomach	stomach
8	chr15:78387200-78391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:78387200-78395400	Weak transcription	Fetal Intestine Large	intestine
10	chr15:78389800-78391000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr15:78390000-78395000	Enhancers	Placenta	Placenta
12	chr15:78390000-78395600	Strong transcription	Fetal Intestine Small	intestine
13	chr15:78390200-78391400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:78390800-78391000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:78390800-78391200	Strong transcription	Thymus	Thymus

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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