Variant report

Variant	rs10100465
Chromosome Location	chr8:118626279-118626280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10089009	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10093382	0.86[EUR][1000 genomes]
rs1160474	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13254406	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13280410	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13439042	0.83[EUR][1000 genomes]
rs1396354	0.83[EUR][1000 genomes]
rs1508555	0.86[EUR][1000 genomes]
rs17753197	0.81[EUR][1000 genomes]
rs218017	0.83[CEU][hapmap]
rs218018	0.84[CEU][hapmap]
rs2202792	0.83[EUR][1000 genomes]
rs2202793	0.83[EUR][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	nsv1028387	chr8:118602105-118640162	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10100465	PAPPA	trans	cerebellum	SCAN
rs10100465	NT5M	trans	parietal	SCAN
rs10100465	ENPP2	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118616000-118627400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:118616000-118630400	Weak transcription	Aorta	Aorta
3	chr8:118622000-118627200	Weak transcription	HSMMtube	muscle
4	chr8:118622000-118627400	Weak transcription	NHLF	lung
5	chr8:118622600-118628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:118623000-118627200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:118623000-118627200	Weak transcription	Hela-S3	cervix
8	chr8:118623200-118627200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:118623200-118627600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:118623400-118627200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:118623400-118627200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:118623400-118627200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:118623400-118627200	Weak transcription	HSMM	muscle
14	chr8:118623400-118627400	Weak transcription	HepG2	liver
15	chr8:118623400-118627600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:118623600-118627200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:118623600-118627400	Weak transcription	A549	lung
18	chr8:118623600-118627400	Weak transcription	NH-A	brain
19	chr8:118623800-118626400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:118623800-118626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:118623800-118627200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:118623800-118627200	Weak transcription	NHDF-Ad	bronchial
23	chr8:118623800-118627200	Weak transcription	Osteobl	bone
24	chr8:118625800-118626600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:118626000-118627200	Weak transcription	Stomach Mucosa	stomach
26	chr8:118626000-118629000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:118626000-118629000	Enhancers	NHEK	skin
28	chr8:118626200-118629000	Enhancers	HMEC	breast

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