Variant report

Variant	rs3853123
Chromosome Location	chr10:49820653-49820654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49812643..49815279-chr10:49817934..49821454,3	K562	blood:
2	chr10:49814485..49816162-chr10:49819695..49822517,2	MCF-7	breast:
3	chr10:49816362..49818003-chr10:49818843..49820950,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10776629	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776630	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10776631	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10776632	0.91[EUR][1000 genomes]
rs10857612	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10857613	0.90[EUR][1000 genomes]
rs10857614	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1822861	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2377522	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2377523	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34939981	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3844493	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3845284	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3910909	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3910910	0.88[EUR][1000 genomes]
rs3910911	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3910912	0.88[ASN][1000 genomes]
rs4838428	0.91[EUR][1000 genomes]
rs4838429	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7904633	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv540624	chr10:49805087-49822634	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3853123	ARHGAP22	cis	Whole Blood	GTEx
rs3853123	ARHGAP22	cis	Artery Aorta	GTEx
rs3853123	ARHGAP22	cis	Artery Tibial	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49813400-49844200	Weak transcription	Pancreas	Pancrea
2	chr10:49814200-49823400	Enhancers	NHDF-Ad	bronchial
3	chr10:49815000-49823000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:49815800-49822200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:49818800-49821200	Enhancers	Brain Substantia Nigra	brain
6	chr10:49818800-49821600	Enhancers	HSMMtube	muscle
7	chr10:49819200-49820800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr10:49819200-49821000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr10:49819400-49821000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:49819400-49823200	Enhancers	HMEC	breast
11	chr10:49819600-49821600	Enhancers	GM12878-XiMat	blood
12	chr10:49819600-49822800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:49819600-49823200	Enhancers	HSMM	muscle
14	chr10:49820000-49823000	Enhancers	Osteobl	bone
15	chr10:49820200-49820800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr10:49820200-49821200	Enhancers	HUVEC	blood vessel
17	chr10:49820200-49821400	Enhancers	NH-A	brain
18	chr10:49820200-49823200	Enhancers	NHLF	lung
19	chr10:49820400-49820800	Enhancers	Brain Anterior Caudate	brain
20	chr10:49820400-49821000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:49820400-49821000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:49820400-49821400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:49820600-49821200	Enhancers	Brain Hippocampus Middle	brain
24	chr10:49820600-49822800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:49820600-49823000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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