Variant report

Variant	rs17254739
Chromosome Location	chr8:59033843-59033844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11997240	0.80[TSI][hapmap]
rs11998684	0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12155558	0.85[ASN][1000 genomes]
rs12156321	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs13263290	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs13263507	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13266191	0.82[ASN][1000 genomes]
rs13271652	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs13273891	0.85[CHB][hapmap];0.85[MEX][hapmap]
rs13277246	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1354814	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16922941	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16922990	0.85[CHB][hapmap]
rs17175390	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs17175804	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17175965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17176389	0.93[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs2174727	0.89[TSI][hapmap]
rs35086012	0.85[ASN][1000 genomes]
rs35350559	0.85[ASN][1000 genomes]
rs35612391	0.88[AFR][1000 genomes]
rs35786251	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35856598	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35979674	0.85[ASN][1000 genomes]
rs6984700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988260	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs6991555	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs6997924	0.85[CHB][hapmap]
rs7000317	0.85[ASN][1000 genomes]
rs7010934	0.85[CHB][hapmap]
rs72660392	0.82[ASN][1000 genomes]
rs72662407	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7820808	0.89[TSI][hapmap]
rs7823853	0.85[CHB][hapmap]
rs7835676	0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs9792139	0.89[TSI][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	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
rs17254739	IMPAD1	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59011400-59035400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:59011600-59044800	Weak transcription	Spleen	Spleen
3	chr8:59014800-59034400	Weak transcription	Fetal Brain Female	brain
4	chr8:59015200-59058200	Weak transcription	Aorta	Aorta
5	chr8:59015400-59036400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:59015400-59037000	Weak transcription	Psoas Muscle	Psoas
7	chr8:59016600-59046200	Weak transcription	Fetal Brain Male	brain
8	chr8:59019400-59036800	Weak transcription	Fetal Kidney	kidney
9	chr8:59021800-59040600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:59021800-59044200	Weak transcription	Fetal Lung	lung
11	chr8:59022400-59050000	Weak transcription	Ovary	ovary
12	chr8:59025800-59034200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:59026000-59050600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:59026200-59049800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:59028000-59040800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:59028400-59034200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:59028600-59042000	Weak transcription	Lung	lung
18	chr8:59028800-59040600	Weak transcription	NHDF-Ad	bronchial
19	chr8:59029000-59058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:59029400-59035400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:59030000-59034600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:59031000-59035400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:59031200-59034400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:59031200-59035000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:59031400-59035200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:59031400-59035800	Enhancers	HepG2	liver
27	chr8:59031800-59035600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:59032000-59047200	Weak transcription	Liver	Liver
29	chr8:59032000-59049200	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:59032200-59036000	Enhancers	Fetal Heart	heart
31	chr8:59032600-59035400	Weak transcription	Gastric	stomach
32	chr8:59033200-59045800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:59033400-59034800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:59033400-59034800	Enhancers	HSMMtube	muscle
35	chr8:59033600-59034000	Enhancers	Right Ventricle	heart
36	chr8:59033600-59034800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr8:59033600-59036000	Enhancers	HSMM	muscle
38	chr8:59033600-59036400	Weak transcription	Brain Germinal Matrix	brain
39	chr8:59033800-59034400	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:59033800-59035400	Weak transcription	Left Ventricle	heart
41	chr8:59033800-59035400	Weak transcription	Right Atrium	heart
42	chr8:59033800-59042000	Weak transcription	Fetal Stomach	stomach
43	chr8:59033800-59044800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:59033800-59046000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:59033800-59050200	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links