Variant report

Variant	rs7010934
Chromosome Location	chr8:58977019-58977020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10093645	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11998684	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs12155558	0.85[ASN][1000 genomes]
rs12156321	0.85[CHB][hapmap]
rs13263290	0.85[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs13263507	1.00[CHB][hapmap]
rs13268233	1.00[CEU][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13273891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13277246	1.00[CHB][hapmap]
rs16922941	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs16922990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17175390	0.85[CHB][hapmap]
rs17175804	0.85[CHB][hapmap]
rs17175965	0.85[CHB][hapmap]
rs17254739	0.85[CHB][hapmap]
rs35350559	0.85[ASN][1000 genomes]
rs35979674	0.85[ASN][1000 genomes]
rs6984700	0.85[CHB][hapmap]
rs6988260	0.85[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs6991555	0.85[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs6997924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7000317	0.85[ASN][1000 genomes]
rs7823853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7835676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][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	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
2	esv1803360	chr8:58976889-58986166	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7010934	IMPAD1	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
3	chr8:58952800-58979600	Weak transcription	HSMMtube	muscle
4	chr8:58958000-58979000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:58963600-58978400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:58963800-58978800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:58966600-58980000	Weak transcription	Ovary	ovary
8	chr8:58968800-58981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:58969800-58979800	Weak transcription	HSMM	muscle
10	chr8:58970000-58978600	Weak transcription	Lung	lung
11	chr8:58970000-58978600	Weak transcription	Right Atrium	heart
12	chr8:58970000-58979000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:58970400-58978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:58970600-58978600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:58970600-58979000	Weak transcription	NH-A	brain
16	chr8:58971000-58977600	Weak transcription	Fetal Kidney	kidney
17	chr8:58971200-58982800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:58973200-58979800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:58973600-58978600	Weak transcription	Psoas Muscle	Psoas
20	chr8:58973600-58982600	Weak transcription	Spleen	Spleen
21	chr8:58974000-58979800	Weak transcription	NHLF	lung
22	chr8:58974200-58978600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:58974200-58979000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:58974400-58978200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:58974400-58979200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:58974400-58979200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:58974400-58979200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:58974400-58979600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:58974400-58979600	Weak transcription	NHDF-Ad	bronchial
30	chr8:58974600-58977400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:58974600-58978600	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:58974600-58979400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:58974800-58978400	Weak transcription	Brain Germinal Matrix	brain
34	chr8:58975600-58978800	Weak transcription	Brain Anterior Caudate	brain
35	chr8:58975800-58978400	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:58975800-58978800	Weak transcription	Left Ventricle	heart
37	chr8:58975800-58978800	Weak transcription	Right Ventricle	heart
38	chr8:58975800-58979000	Weak transcription	Fetal Brain Female	brain
39	chr8:58975800-58982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:58976000-58977200	Weak transcription	Fetal Heart	heart
41	chr8:58976000-58977600	Weak transcription	Fetal Lung	lung
42	chr8:58976000-58978400	Weak transcription	Fetal Stomach	stomach
43	chr8:58976000-58978800	Weak transcription	Fetal Brain Male	brain

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