Variant report

Variant	rs10230368
Chromosome Location	chr7:79809984-79809985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10257372	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10272499	0.90[MEX][hapmap]
rs12671775	0.81[AMR][1000 genomes]
rs12706673	0.94[ASN][1000 genomes]
rs1468242	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.98[ASN][1000 genomes]
rs17153558	0.89[ASW][hapmap]
rs2428466	0.92[ASN][1000 genomes]
rs2428467	0.86[ASN][1000 genomes]
rs2523184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2523192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2714457	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2714460	0.97[ASN][1000 genomes]
rs4512317	0.90[MEX][hapmap];0.81[AMR][1000 genomes]
rs6945280	0.89[MEX][hapmap]
rs6956455	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.96[ASN][1000 genomes]
rs7808119	0.81[AMR][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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10230368	MAGI2	cis	parietal	SCAN
rs10230368	CD36	cis	cerebellum	SCAN
rs10230368	GNAI1	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79789400-79814200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:79795400-79816000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:79796400-79816000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:79801800-79840400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:79802400-79813200	Weak transcription	Placenta	Placenta
6	chr7:79802600-79820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:79803200-79812000	Weak transcription	NHEK	skin
8	chr7:79803200-79812200	Weak transcription	Ovary	ovary
9	chr7:79803400-79810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:79803400-79811800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:79803400-79812000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:79804800-79813200	Weak transcription	Left Ventricle	heart
13	chr7:79806000-79810000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:79806000-79811200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:79806000-79816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:79806600-79810000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:79806800-79810400	Enhancers	Brain Hippocampus Middle	brain
18	chr7:79806800-79810400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:79806800-79814800	Enhancers	Brain Substantia Nigra	brain
20	chr7:79807000-79810000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:79807200-79812000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:79807200-79812000	Weak transcription	A549	lung
23	chr7:79807200-79813200	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:79807200-79829200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:79807200-79833400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:79807400-79810200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:79807400-79812000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:79807400-79812800	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:79807600-79810600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:79807600-79810800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:79807600-79816200	Weak transcription	Osteobl	bone
32	chr7:79807800-79816000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:79807800-79842000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:79808000-79812000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:79808000-79812000	Weak transcription	NHLF	lung
36	chr7:79808600-79810000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:79808600-79810200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:79808600-79810200	Enhancers	Fetal Brain Female	brain
39	chr7:79808600-79810400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:79808600-79810600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:79808600-79813800	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:79809000-79810000	Enhancers	Primary hematopoietic stem cells	blood
43	chr7:79809000-79810200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:79809000-79810200	Enhancers	Fetal Kidney	kidney
45	chr7:79809000-79810400	Enhancers	Adipose Nuclei	Adipose
46	chr7:79809000-79810600	Enhancers	Brain Angular Gyrus	brain
47	chr7:79809400-79810600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:79809400-79811000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:79809400-79815600	Weak transcription	Liver	Liver
50	chr7:79809600-79810400	Enhancers	Brain Anterior Caudate	brain

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