Variant report

Variant	rs10268773
Chromosome Location	chr7:79799129-79799130
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10241877	0.83[GIH][hapmap]
rs10268519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276981	0.83[GIH][hapmap]
rs13242552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17806203	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2366255	0.81[GIH][hapmap]
rs28435776	0.90[EUR][1000 genomes]
rs35118140	0.90[EUR][1000 genomes]
rs35334177	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3801357	0.83[GIH][hapmap]
rs4731252	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66895505	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67170531	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67783451	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67854907	0.96[EUR][1000 genomes];1.00[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10268773	GNAI1	cis	cerebellum	SCAN
rs10268773	GNAI1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79781200-79803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:79783800-79806600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:79786200-79799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:79788600-79799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:79789400-79814200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:79791200-79799400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:79791600-79801400	Weak transcription	Ovary	ovary
8	chr7:79792800-79809000	Weak transcription	Fetal Kidney	kidney
9	chr7:79793200-79799600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:79793200-79802000	Weak transcription	Brain Angular Gyrus	brain
11	chr7:79794400-79802200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:79795000-79799200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:79795400-79816000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:79795600-79809000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:79796400-79816000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:79796600-79802000	Weak transcription	Brain Substantia Nigra	brain
17	chr7:79796800-79801600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:79796800-79802200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:79797200-79799400	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:79797600-79801600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:79798400-79802600	ZNF genes & repeats	A549	lung
22	chr7:79799000-79799600	ZNF genes & repeats	Fetal Lung	lung
23	chr7:79799000-79800800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:79799000-79803400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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