Variant report

Variant	rs1508569
Chromosome Location	chr8:118662557-118662558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10089009	0.80[EUR][1000 genomes]
rs10093232	0.93[EUR][1000 genomes]
rs10093382	0.84[EUR][1000 genomes]
rs10108248	0.93[EUR][1000 genomes]
rs10955822	0.93[EUR][1000 genomes]
rs10955823	0.87[EUR][1000 genomes]
rs10955825	0.83[EUR][1000 genomes]
rs1160474	0.80[EUR][1000 genomes]
rs13439042	0.86[EUR][1000 genomes]
rs1383176	0.93[EUR][1000 genomes]
rs1396351	0.86[EUR][1000 genomes]
rs1396354	0.86[EUR][1000 genomes]
rs1508555	0.84[EUR][1000 genomes]
rs1508566	0.84[EUR][1000 genomes]
rs16890041	0.93[EUR][1000 genomes]
rs17753197	0.91[EUR][1000 genomes]
rs218017	0.87[CEU][hapmap]
rs218018	0.88[CEU][hapmap]
rs2202792	0.86[EUR][1000 genomes]
rs2202793	0.86[EUR][1000 genomes]
rs2202794	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34660998	0.91[EUR][1000 genomes]
rs4604472	0.93[EUR][1000 genomes]
rs4876727	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469700	0.84[EUR][1000 genomes]
rs7815693	0.86[EUR][1000 genomes]
rs7838659	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1508569	NT5M	trans	parietal	SCAN
rs1508569	ENPP2	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118662000-118663600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:118662200-118662600	Enhancers	HepG2	liver
3	chr8:118662200-118662800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:118662200-118662800	Enhancers	Right Atrium	heart
5	chr8:118662200-118663000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:118662200-118663000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:118662200-118663000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:118662200-118663000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:118662200-118663000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:118662200-118663000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:118662200-118663000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:118662200-118663000	Enhancers	Fetal Muscle Leg	muscle
13	chr8:118662200-118663000	Enhancers	Fetal Stomach	stomach
14	chr8:118662200-118663000	Enhancers	HSMM	muscle
15	chr8:118662200-118663000	Enhancers	NH-A	brain
16	chr8:118662200-118663000	Enhancers	NHEK	skin
17	chr8:118662200-118663000	Enhancers	NHLF	lung
18	chr8:118662200-118663000	Enhancers	Osteobl	bone
19	chr8:118662200-118663200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:118662200-118663200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:118662200-118663200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:118662200-118663200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:118662200-118663200	Enhancers	Fetal Heart	heart
24	chr8:118662200-118663200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:118662200-118663200	Enhancers	NHDF-Ad	bronchial
26	chr8:118662200-118663400	Enhancers	Fetal Lung	lung
27	chr8:118662200-118663600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:118662200-118663600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:118662200-118663600	Enhancers	Fetal Brain Male	brain
30	chr8:118662200-118663800	Enhancers	HSMMtube	muscle
31	chr8:118662400-118662800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:118662400-118662800	Enhancers	Adipose Nuclei	Adipose
33	chr8:118662400-118662800	Enhancers	Colon Smooth Muscle	Colon
34	chr8:118662400-118662800	Enhancers	Esophagus	oesophagus
35	chr8:118662400-118662800	Enhancers	Fetal Intestine Small	intestine
36	chr8:118662400-118662800	Enhancers	Rectal Smooth Muscle	rectum
37	chr8:118662400-118663000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:118662400-118663000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:118662400-118663000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:118662400-118663000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr8:118662400-118663000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:118662400-118663000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:118662400-118663000	Enhancers	Aorta	Aorta
44	chr8:118662400-118663000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr8:118662400-118663000	Enhancers	Placenta	Placenta
46	chr8:118662400-118663000	Enhancers	Ovary	ovary
47	chr8:118662400-118663200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:118662400-118663200	Enhancers	Liver	Liver

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