Variant report

Variant	rs9792139
Chromosome Location	chr8:59028860-59028861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11997240	0.94[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1354814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16918704	0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16923059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923060	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17254739	0.89[TSI][hapmap]
rs2174727	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35612391	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35786251	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6998468	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7010734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7820808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9792139	IMPAD1	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59011000-59031600	Weak transcription	Liver	Liver
2	chr8:59011400-59035400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:59011600-59029400	Weak transcription	Adipose Nuclei	Adipose
4	chr8:59011600-59030800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:59011600-59031800	Weak transcription	Gastric	stomach
6	chr8:59011600-59044800	Weak transcription	Spleen	Spleen
7	chr8:59014800-59034400	Weak transcription	Fetal Brain Female	brain
8	chr8:59015200-59058200	Weak transcription	Aorta	Aorta
9	chr8:59015400-59036400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:59015400-59037000	Weak transcription	Psoas Muscle	Psoas
11	chr8:59015600-59030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:59016600-59033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:59016600-59046200	Weak transcription	Fetal Brain Male	brain
14	chr8:59016800-59029600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:59019400-59036800	Weak transcription	Fetal Kidney	kidney
16	chr8:59020200-59032200	Weak transcription	Brain Germinal Matrix	brain
17	chr8:59020600-59032600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:59021600-59033400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:59021800-59040600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:59021800-59044200	Weak transcription	Fetal Lung	lung
21	chr8:59022400-59050000	Weak transcription	Ovary	ovary
22	chr8:59022800-59033400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:59025600-59032000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:59025800-59029000	Enhancers	HSMM	muscle
25	chr8:59025800-59034200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:59026000-59050600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:59026200-59033600	Weak transcription	Right Ventricle	heart
28	chr8:59026200-59049800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:59026800-59030800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:59027200-59029400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:59027400-59030000	Strong transcription	Fetal Stomach	stomach
32	chr8:59028000-59033400	Weak transcription	HSMMtube	muscle
33	chr8:59028000-59040800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:59028200-59029000	Enhancers	Fetal Heart	heart
35	chr8:59028200-59029000	Enhancers	HepG2	liver
36	chr8:59028200-59029600	Enhancers	Left Ventricle	heart
37	chr8:59028400-59029000	Genic enhancers	Fetal Muscle Leg	muscle
38	chr8:59028400-59030000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:59028400-59034200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:59028600-59029000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:59028600-59029000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr8:59028600-59029600	Enhancers	Right Atrium	heart
43	chr8:59028600-59042000	Weak transcription	Lung	lung
44	chr8:59028800-59029000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr8:59028800-59029000	Enhancers	NHLF	lung
46	chr8:59028800-59040600	Weak transcription	NHDF-Ad	bronchial

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