Variant report

Variant	rs7815693
Chromosome Location	chr8:118684198-118684199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10089009	0.83[EUR][1000 genomes]
rs10093232	0.93[EUR][1000 genomes]
rs10093382	0.80[EUR][1000 genomes]
rs10108248	0.93[EUR][1000 genomes]
rs10955822	0.93[EUR][1000 genomes]
rs10955823	0.87[EUR][1000 genomes]
rs10955825	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1160474	0.83[EUR][1000 genomes]
rs13254406	0.81[EUR][1000 genomes]
rs13280410	0.80[EUR][1000 genomes]
rs13439042	0.83[EUR][1000 genomes]
rs1383176	0.93[EUR][1000 genomes]
rs1396351	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1396354	0.83[EUR][1000 genomes]
rs1508555	0.80[EUR][1000 genomes]
rs1508566	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1508569	0.86[EUR][1000 genomes]
rs16890041	0.93[EUR][1000 genomes]
rs17753197	0.95[EUR][1000 genomes]
rs218017	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs218018	0.87[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.88[ASN][1000 genomes]
rs2202792	0.83[EUR][1000 genomes]
rs2202793	0.83[EUR][1000 genomes]
rs34660998	0.92[EUR][1000 genomes]
rs4604472	0.93[EUR][1000 genomes]
rs6469700	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6469701	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7838659	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7815693	ENPP2	cis	parietal	SCAN
rs7815693	PAPPA	trans	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118680000-118685200	Enhancers	HepG2	liver
2	chr8:118680800-118685200	Enhancers	Liver	Liver
3	chr8:118681000-118684600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:118681000-118685000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:118681000-118685200	Enhancers	HMEC	breast
6	chr8:118681200-118684400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:118681400-118684600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:118681400-118684600	Enhancers	Fetal Intestine Small	intestine
9	chr8:118681400-118684800	Enhancers	HSMM	muscle
10	chr8:118681400-118685000	Enhancers	NHEK	skin
11	chr8:118681400-118685000	Enhancers	NHLF	lung
12	chr8:118681400-118685200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:118681400-118685200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:118681400-118685200	Enhancers	NHDF-Ad	bronchial
15	chr8:118681600-118684800	Enhancers	Fetal Intestine Large	intestine
16	chr8:118681600-118684800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr8:118682400-118684800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:118683000-118684200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:118683000-118684400	Weak transcription	Ovary	ovary
20	chr8:118683200-118684200	Weak transcription	Fetal Kidney	kidney
21	chr8:118683200-118684400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:118683600-118684800	Enhancers	NH-A	brain
23	chr8:118683600-118685200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:118683800-118684200	Flanking Active TSS	Osteobl	bone
25	chr8:118684000-118684200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:118684000-118684200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:118684000-118684200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr8:118684000-118684600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:118684000-118684600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:118684000-118684800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr8:118684000-118684800	Enhancers	Stomach Mucosa	stomach
32	chr8:118684000-118684800	Enhancers	Hela-S3	cervix
33	chr8:118684000-118685000	Enhancers	Fetal Lung	lung
34	chr8:118684000-118685000	Enhancers	A549	lung

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