Variant report

Variant	rs1822861
Chromosome Location	chr10:49834326-49834327
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr10:49834183-49834686	ECC-1	luminal epithelium:	n/a	chr10:49834401-49834421 chr10:49834401-49834421 chr10:49834401-49834415 chr10:49834466-49834480 chr10:49834407-49834416
2	REST	chr10:49834109-49834556	GM12878	blood:	n/a	chr10:49834401-49834421 chr10:49834401-49834421 chr10:49834147-49834165 chr10:49834401-49834415 chr10:49834466-49834480 chr10:49834407-49834416
3	REST	chr10:49834275-49834573	H1-hESC	embryonic stem cell:	n/a	chr10:49834401-49834421 chr10:49834401-49834421 chr10:49834401-49834415 chr10:49834466-49834480 chr10:49834407-49834416
4	REST	chr10:49834159-49834646	HL-60	blood:	n/a	chr10:49834401-49834421 chr10:49834401-49834421 chr10:49834401-49834415 chr10:49834466-49834480 chr10:49834407-49834416
5	REST	chr10:49834277-49834501	H1-hESC	embryonic stem cell:	n/a	chr10:49834401-49834421 chr10:49834401-49834421 chr10:49834401-49834415 chr10:49834466-49834480 chr10:49834407-49834416

Variant related genes	Relation type
ENSG00000251413	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10776629	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10776630	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10776631	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10776632	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10857612	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10857613	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10857614	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs2377522	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2377523	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2377596	0.86[AMR][1000 genomes]
rs34939981	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3844493	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3845284	0.85[EUR][1000 genomes]
rs3853123	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3910909	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3910910	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3910911	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3910912	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs4838428	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4838429	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7904633	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1822861	ARHGAP22	cis	Artery Tibial	GTEx
rs1822861	ARHGAP22	cis	Artery Aorta	GTEx
rs1822861	ARHGAP22	cis	multi-tissue	Pritchard
rs1822861	ARHGAP22	cis	Whole Blood	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49813400-49844200	Weak transcription	Pancreas	Pancrea
2	chr10:49828800-49841400	Weak transcription	Aorta	Aorta
3	chr10:49831000-49834400	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:49831000-49835800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:49831400-49835600	Enhancers	HUVEC	blood vessel
6	chr10:49831600-49834600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:49831600-49843400	Weak transcription	Right Atrium	heart
8	chr10:49831800-49835000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr10:49832400-49842000	Weak transcription	Brain Substantia Nigra	brain
10	chr10:49833600-49834600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:49833600-49839800	Weak transcription	Osteobl	bone
12	chr10:49833800-49836000	Weak transcription	NHDF-Ad	bronchial
13	chr10:49834200-49834600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:49834200-49842000	Weak transcription	NHLF	lung

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