Variant report

Variant	rs10081383
Chromosome Location	chr7:79917700-79917701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10215570	0.85[ASN][1000 genomes]
rs10224409	0.85[ASN][1000 genomes]
rs10226374	0.89[ASN][1000 genomes]
rs10235376	1.00[ASN][1000 genomes]
rs10245039	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10246790	0.90[ASN][1000 genomes]
rs10249625	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265717	0.81[JPT][hapmap]
rs10267427	0.81[JPT][hapmap]
rs10269645	0.85[ASN][1000 genomes]
rs10480799	0.81[JPT][hapmap]
rs10954137	0.96[ASN][1000 genomes]
rs13222182	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13224358	0.92[EUR][1000 genomes]
rs13226877	1.00[ASN][1000 genomes]
rs13229096	0.89[ASN][1000 genomes]
rs13230620	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13233772	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13234088	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13237208	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13237302	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13237312	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13238619	0.90[ASN][1000 genomes]
rs13243724	0.99[ASN][1000 genomes]
rs1878214	0.80[JPT][hapmap]
rs1995971	0.96[ASN][1000 genomes]
rs2048474	0.96[ASN][1000 genomes]
rs2158123	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28584961	0.89[ASN][1000 genomes]
rs28875814	0.85[ASN][1000 genomes]
rs304773	0.93[JPT][hapmap]
rs304774	0.87[JPT][hapmap]
rs304775	0.93[JPT][hapmap]
rs3914181	0.85[ASN][1000 genomes]
rs4731318	0.93[EUR][1000 genomes]
rs67417372	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6966532	0.93[JPT][hapmap]
rs7782930	0.99[ASN][1000 genomes]
rs7785183	0.99[ASN][1000 genomes]
rs7788512	0.82[JPT][hapmap]
rs7788673	0.82[EUR][1000 genomes]
rs7792873	0.82[EUR][1000 genomes]
rs7797587	0.99[ASN][1000 genomes]
rs7798039	0.99[ASN][1000 genomes]
rs9656355	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs979425	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2761340	chr7:79905897-79922486	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10081383	RPL13AP17	cis	parietal	SCAN
rs10081383	RPS6KA5	trans	parietal	SCAN
rs10081383	GNAI1	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79913400-79922000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:79914800-79923400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:79915000-79923600	Weak transcription	NHLF	lung
4	chr7:79916400-79917800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:79916400-79918200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:79916400-79918200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr7:79916400-79918200	Enhancers	Brain Substantia Nigra	brain
8	chr7:79916600-79918000	Enhancers	HMEC	breast
9	chr7:79916800-79917800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:79916800-79917800	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr7:79916800-79918200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:79917000-79918200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:79917200-79918600	Enhancers	NH-A	brain
14	chr7:79917400-79918000	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:79917400-79918200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:79917400-79918200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:79917400-79918600	Enhancers	Osteobl	bone
18	chr7:79917600-79918200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:79917600-79918200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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