Variant report

Variant	rs7715499
Chromosome Location	chr5:94331398-94331399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs188412	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs211514	0.89[AFR][1000 genomes]
rs2554365	0.85[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs295207	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295208	0.83[CHD][hapmap]
rs295209	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs365895	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs372885	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs378228	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs380413	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs387468	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs414007	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs435219	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs436063	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs436206	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs451038	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7732965	0.83[CHD][hapmap];0.82[GIH][hapmap]

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	esv2756469	chr5:94323268-94400017	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7715499	C5orf27	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94301200-94337600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:94313800-94337000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:94319800-94346600	Weak transcription	HUVEC	blood vessel
4	chr5:94320400-94348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:94322400-94334200	Weak transcription	Gastric	stomach
6	chr5:94325600-94337600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:94325800-94337400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:94326000-94339400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:94327000-94339200	Weak transcription	Primary T cells from cord blood	blood
10	chr5:94327200-94339000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:94330000-94331600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:94330200-94332200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:94330400-94334200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:94330400-94336600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:94330600-94331600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:94330800-94331400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:94330800-94332200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:94331000-94331400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:94331000-94332200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:94331200-94331600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:94331200-94332000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:94331200-94333000	Weak transcription	Stomach Mucosa	stomach

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