Variant report

Variant	rs7715750
Chromosome Location	chr5:41339585-41339586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1380998	1.00[JPT][hapmap]
rs1551574	1.00[JPT][hapmap]
rs2289786	1.00[JPT][hapmap]
rs318035	1.00[JPT][hapmap]
rs318036	1.00[JPT][hapmap]
rs318065	1.00[GIH][hapmap]
rs319005	1.00[JPT][hapmap]
rs319011	1.00[JPT][hapmap]
rs319012	1.00[JPT][hapmap]
rs6451574	1.00[JPT][hapmap]
rs672658	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427717	chr5:41201377-41369202	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830269	chr5:41209113-41393536	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1851387	chr5:41336050-41423631	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7715750	PPP4R4	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41333800-41345800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:41336800-41341400	Weak transcription	Ovary	ovary
3	chr5:41337400-41340600	Weak transcription	Left Ventricle	heart
4	chr5:41337400-41340600	Weak transcription	Right Ventricle	heart
5	chr5:41337400-41345400	Weak transcription	Right Atrium	heart
6	chr5:41338200-41341600	Enhancers	Fetal Heart	heart

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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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