Variant report

Variant	rs10105053
Chromosome Location	chr8:69078805-69078806
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13253979	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1369165	0.81[CEU][hapmap];0.84[GIH][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1434781	0.89[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1545065	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1865428	0.89[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1865429	0.89[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2003187	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2082701	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2164168	0.89[CEU][hapmap];0.85[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2217788	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7007590	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7819318	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7828065	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs874805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	esv3331644	chr8:68806705-69189171	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1792589	chr8:69066748-69085741	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10105053	C8orf46	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69020000-69082600	Weak transcription	Fetal Stomach	stomach
2	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
3	chr8:69046600-69083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:69052600-69104600	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:69067000-69082600	Weak transcription	Brain Anterior Caudate	brain
6	chr8:69068600-69087200	Weak transcription	Lung	lung
7	chr8:69075000-69130800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:69075200-69081400	Weak transcription	Left Ventricle	heart
9	chr8:69075200-69109200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:69075200-69113800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:69075400-69082200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:69076400-69079800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:69076400-69080600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:69076400-69085600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:69076400-69090000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:69076400-69104000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:69076400-69104200	Weak transcription	Adipose Nuclei	Adipose
18	chr8:69077200-69079000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:69077200-69079000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:69078000-69095200	Weak transcription	HUVEC	blood vessel
21	chr8:69078400-69090000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:69078400-69104400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:69078400-69113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:69078600-69097200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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