Variant report

Variant	rs4375396
Chromosome Location	chr10:49793397-49793398
allele	C/T
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	CBX3	chr10:49793186-49793487	K562	blood:	n/a	n/a
2	POLR2A	chr10:49793286-49794417	U87	brain:	n/a	n/a
3	ZNF143	chr10:49793266-49793543	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr10:49793287-49794294	U87	brain:	n/a	n/a
5	CBX3	chr10:49793180-49793569	K562	blood:	n/a	n/a

Variant related genes	Relation type
ARHGAP22	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10491036	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10491037	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10491038	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10491039	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10745279	0.93[EUR][1000 genomes]
rs11593803	0.83[ASN][1000 genomes]
rs17010841	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17010845	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1814474	0.83[ASN][1000 genomes]
rs2377518	0.83[ASN][1000 genomes]
rs2377519	0.83[ASN][1000 genomes]
rs2377520	0.83[ASN][1000 genomes]
rs2889659	0.83[ASN][1000 genomes]
rs3843000	0.83[ASN][1000 genomes]
rs3851549	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3851551	0.83[ASN][1000 genomes]
rs41281993	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41281995	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4282942	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4320911	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4572084	0.83[ASN][1000 genomes]
rs4838427	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4838628	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4838629	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59135459	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61092407	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61235893	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73300277	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73300278	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73300297	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74130570	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs870353	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs935285	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs935287	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs935288	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][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	chr10:49788800-49793400	Strong transcription	HSMM	muscle
6	chr10:49788800-49795000	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr10:49788800-49797200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:49789400-49793400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:49790600-49793400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr10:49790600-49794800	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:49791000-49796200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:49791200-49793600	Weak transcription	HMEC	breast
13	chr10:49791400-49793800	Weak transcription	NHLF	lung
14	chr10:49791400-49798400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr10:49792000-49793600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:49792200-49796600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:49792200-49797200	Weak transcription	Brain Anterior Caudate	brain
18	chr10:49792400-49795800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr10:49792400-49795800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr10:49792400-49796400	Weak transcription	Brain Angular Gyrus	brain
21	chr10:49792600-49793400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:49792600-49795000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:49792600-49795200	Weak transcription	NHDF-Ad	bronchial
24	chr10:49792600-49796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:49792800-49793400	Weak transcription	HSMMtube	muscle
26	chr10:49792800-49794400	Weak transcription	Brain Substantia Nigra	brain
27	chr10:49792800-49796800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:49792800-49796800	Weak transcription	HUVEC	blood vessel
29	chr10:49793000-49793400	Weak transcription	NH-A	brain
30	chr10:49793000-49794200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:49793200-49793600	ZNF genes & repeats	Gastric	stomach
32	chr10:49793200-49795800	Weak transcription	Left Ventricle	heart

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