Variant report

Variant	rs2174727
Chromosome Location	chr8:59032572-59032573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59032115..59032698-chr8:59133894..59134462,2	MCF-7	breast:

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];1.00[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1354814	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16918704	0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16923059	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16923060	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17254739	0.89[TSI][hapmap]
rs35612391	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471684	0.87[MEX][hapmap]
rs6998468	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7010734	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7820808	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9792139	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]

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
rs2174727	IMPAD1	cis	cerebellum	SCAN

Chromatin state (count:46 , 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	chr8:59016600-59033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:59016600-59046200	Weak transcription	Fetal Brain Male	brain
9	chr8:59019400-59036800	Weak transcription	Fetal Kidney	kidney
10	chr8:59020600-59032600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:59021600-59033400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:59021800-59040600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:59021800-59044200	Weak transcription	Fetal Lung	lung
14	chr8:59022400-59050000	Weak transcription	Ovary	ovary
15	chr8:59022800-59033400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:59025800-59034200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:59026000-59050600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:59026200-59033600	Weak transcription	Right Ventricle	heart
19	chr8:59026200-59049800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:59028000-59033400	Weak transcription	HSMMtube	muscle
21	chr8:59028000-59040800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:59028400-59034200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:59028600-59042000	Weak transcription	Lung	lung
24	chr8:59028800-59040600	Weak transcription	NHDF-Ad	bronchial
25	chr8:59029000-59033400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:59029000-59033600	Weak transcription	HSMM	muscle
27	chr8:59029000-59058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:59029400-59035400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:59029600-59033400	Weak transcription	Pancreas	Pancrea
30	chr8:59029600-59033400	Weak transcription	Right Atrium	heart
31	chr8:59030000-59033400	Weak transcription	Fetal Stomach	stomach
32	chr8:59030000-59034600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:59030800-59032800	Enhancers	Left Ventricle	heart
34	chr8:59031000-59035400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:59031200-59034400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:59031200-59035000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:59031400-59035200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:59031400-59035800	Enhancers	HepG2	liver
39	chr8:59031800-59032600	Enhancers	Gastric	stomach
40	chr8:59031800-59035600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:59032000-59033600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:59032000-59047200	Weak transcription	Liver	Liver
43	chr8:59032000-59049200	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:59032200-59033600	Strong transcription	Brain Germinal Matrix	brain
45	chr8:59032200-59036000	Enhancers	Fetal Heart	heart
46	chr8:59032400-59033800	Genic enhancers	Fetal Muscle Leg	muscle

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