Variant report

Variant	rs6471684
Chromosome Location	chr8:59020169-59020170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10093645	0.83[JPT][hapmap]
rs10113596	0.94[CEU][hapmap];0.92[JPT][hapmap];0.83[YRI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10551162	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11997240	0.87[MEX][hapmap];0.80[TSI][hapmap];0.80[AMR][1000 genomes]
rs13268233	0.83[JPT][hapmap]
rs13271022	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277246	0.83[TSI][hapmap]
rs16923020	0.81[MKK][hapmap]
rs16923060	0.80[AMR][1000 genomes]
rs2017063	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2174727	0.87[MEX][hapmap]
rs34101827	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35251985	0.81[EUR][1000 genomes]
rs6471680	0.94[CEU][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7003275	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004271	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7820808	0.87[MEX][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
rs6471684	IMPAD1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59009400-59020800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:59011000-59031600	Weak transcription	Liver	Liver
3	chr8:59011400-59021000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:59011400-59028400	Weak transcription	Placenta	Placenta
5	chr8:59011400-59028800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:59011400-59035400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:59011600-59020800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:59011600-59021000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:59011600-59021000	Weak transcription	Lung	lung
10	chr8:59011600-59025400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:59011600-59029400	Weak transcription	Adipose Nuclei	Adipose
12	chr8:59011600-59030800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:59011600-59031800	Weak transcription	Gastric	stomach
14	chr8:59011600-59044800	Weak transcription	Spleen	Spleen
15	chr8:59011800-59020400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:59011800-59020800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:59013400-59020800	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:59014600-59021000	Weak transcription	Fetal Stomach	stomach
19	chr8:59014600-59025800	Weak transcription	HSMMtube	muscle
20	chr8:59014800-59020800	Weak transcription	HSMM	muscle
21	chr8:59014800-59025000	Weak transcription	NHDF-Ad	bronchial
22	chr8:59014800-59028200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:59014800-59034400	Weak transcription	Fetal Brain Female	brain
24	chr8:59015000-59028600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:59015200-59058200	Weak transcription	Aorta	Aorta
26	chr8:59015400-59020200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:59015400-59020800	Weak transcription	Left Ventricle	heart
28	chr8:59015400-59025000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:59015400-59036400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:59015400-59037000	Weak transcription	Psoas Muscle	Psoas
31	chr8:59015600-59025800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:59015600-59030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:59016600-59033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:59016600-59046200	Weak transcription	Fetal Brain Male	brain
35	chr8:59016800-59029600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:59017600-59021200	Weak transcription	Fetal Heart	heart
37	chr8:59018000-59021000	Weak transcription	Right Atrium	heart
38	chr8:59018000-59021000	Weak transcription	Right Ventricle	heart
39	chr8:59019200-59020400	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:59019200-59021600	Weak transcription	Ovary	ovary
41	chr8:59019400-59036800	Weak transcription	Fetal Kidney	kidney
42	chr8:59019600-59020200	Enhancers	Brain Germinal Matrix	brain
43	chr8:59019800-59021400	Weak transcription	Fetal Lung	lung
44	chr8:59019800-59021600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:59020000-59022000	Weak transcription	Pancreas	Pancrea

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