Variant report

Variant	rs13268233
Chromosome Location	chr8:58986367-58986368
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58906976..58908719-chr8:58984081..58986529,3	MCF-7	breast:
2	chr8:58980424..58983334-chr8:58985225..58988967,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169122	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10093645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10113596	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs13273891	1.00[CEU][hapmap];0.82[GIH][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16922990	1.00[CEU][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6471680	0.91[JPT][hapmap]
rs6471684	0.83[JPT][hapmap]
rs6997924	1.00[CEU][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7010934	1.00[CEU][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7823853	1.00[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7835676	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][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
rs13268233	IMPAD1	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

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	chr8:58979400-58999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:58979600-58988600	Weak transcription	Lung	lung
5	chr8:58980200-58988800	Weak transcription	Placenta	Placenta
6	chr8:58980400-58991400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:58980400-58994400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:58980600-58988800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:58980600-58999600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:58980800-58989200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:58980800-58991600	Weak transcription	Osteobl	bone
12	chr8:58980800-58992000	Weak transcription	Fetal Intestine Small	intestine
13	chr8:58981200-58988800	Weak transcription	Ovary	ovary
14	chr8:58981200-58989600	Weak transcription	NHLF	lung
15	chr8:58982200-58986600	Weak transcription	HepG2	liver
16	chr8:58983000-58986400	Enhancers	Fetal Lung	lung
17	chr8:58983000-58986800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:58983000-58989800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:58983200-58986800	Weak transcription	Spleen	Spleen
20	chr8:58983200-58988400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:58983200-58988600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:58983400-58988400	Weak transcription	Gastric	stomach
23	chr8:58983400-59003800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:58983600-58993400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:58983600-59001200	Weak transcription	Fetal Kidney	kidney
26	chr8:58984000-59003600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:58984200-58991600	Weak transcription	NH-A	brain
28	chr8:58984400-58986400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:58984400-58986600	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:58984400-58986600	Weak transcription	Fetal Stomach	stomach
31	chr8:58984400-58988000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:58984400-58999200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:58984600-58987800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:58984600-58988400	Weak transcription	HSMMtube	muscle
35	chr8:58984600-58988600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:58984600-58989000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:58984600-58989400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:58984600-58989800	Weak transcription	Brain Anterior Caudate	brain
39	chr8:58984600-58991400	Weak transcription	NHDF-Ad	bronchial
40	chr8:58984600-58991800	Weak transcription	Stomach Mucosa	stomach
41	chr8:58984600-58994400	Weak transcription	Brain Angular Gyrus	brain
42	chr8:58984600-59003200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:58984600-59004200	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:58984800-58986400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:58984800-58986800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:58984800-58986800	Weak transcription	Psoas Muscle	Psoas
47	chr8:58984800-58986800	Weak transcription	Right Atrium	heart
48	chr8:58984800-58987200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:58984800-58988000	Weak transcription	HSMM	muscle
50	chr8:58984800-58988200	Enhancers	Fetal Heart	heart

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