Variant report

Variant	rs1814475
Chromosome Location	chr10:49793632-49793633
allele	A/G
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	POLR2A	chr10:49793286-49794417	U87	brain:	n/a	n/a
2	SPI1	chr10:49793612-49794034	HL-60	blood:	n/a	chr10:49793849-49793856 chr10:49793846-49793859
3	POLR2A	chr10:49793287-49794294	U87	brain:	n/a	n/a
4	SPI1	chr10:49793613-49794044	GM12878	blood:	n/a	chr10:49793849-49793856 chr10:49793846-49793859

Variant related genes	Relation type
ARHGAP22	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1822862	0.83[AFR][1000 genomes]
rs74130293	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv550815	chr10:49774633-49794481	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv550816	chr10:49782417-49794481	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1046588	chr10:49790254-49806169	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49787800-49796800	Weak transcription	Right Atrium	heart
2	chr10:49788000-49796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:49788200-49795600	Strong transcription	Osteobl	bone
4	chr10:49788200-49795800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr10:49788800-49795000	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr10:49788800-49797200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:49790600-49794800	Weak transcription	Brain Hippocampus Middle	brain
8	chr10:49791000-49796200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:49791400-49793800	Weak transcription	NHLF	lung
10	chr10:49791400-49798400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:49792200-49796600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:49792200-49797200	Weak transcription	Brain Anterior Caudate	brain
13	chr10:49792400-49795800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:49792400-49795800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:49792400-49796400	Weak transcription	Brain Angular Gyrus	brain
16	chr10:49792600-49795000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:49792600-49795200	Weak transcription	NHDF-Ad	bronchial
18	chr10:49792600-49796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:49792800-49794400	Weak transcription	Brain Substantia Nigra	brain
20	chr10:49792800-49796800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:49792800-49796800	Weak transcription	HUVEC	blood vessel
22	chr10:49793000-49794200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:49793200-49795800	Weak transcription	Left Ventricle	heart
24	chr10:49793400-49793800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:49793400-49794000	ZNF genes & repeats	HSMMtube	muscle
26	chr10:49793400-49794000	ZNF genes & repeats	NH-A	brain
27	chr10:49793400-49794200	Enhancers	Primary B cells from peripheral blood	blood
28	chr10:49793400-49794600	ZNF genes & repeats	HSMM	muscle
29	chr10:49793400-49794800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:49793600-49794000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:49793600-49794000	ZNF genes & repeats	HMEC	breast
32	chr10:49793600-49795800	Weak transcription	Gastric	stomach

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