Variant report

Variant	rs41281993
Chromosome Location	chr10:49791360-49791361
allele	G/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	POLR2A	chr10:49790984-49791735	U87	brain:	n/a	n/a
2	POLR2A	chr10:49790311-49792405	U87	brain:	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10491037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10491038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10491039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10745279	0.98[EUR][1000 genomes]
rs11593803	0.83[ASN][1000 genomes]
rs17010841	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17010845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3851551	0.83[ASN][1000 genomes]
rs41281995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4282942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4320911	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4375396	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4572084	0.83[ASN][1000 genomes]
rs4838427	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4838628	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4838629	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59135459	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61092407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61235893	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73300277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73300278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73300297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74130570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs870353	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs935285	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs935287	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs935288	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49786200-49792800	Enhancers	Brain Substantia Nigra	brain
2	chr10:49787000-49791800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:49787800-49791400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:49787800-49792400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:49787800-49793200	Weak transcription	Gastric	stomach
6	chr10:49787800-49796800	Weak transcription	Right Atrium	heart
7	chr10:49788000-49792600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:49788000-49792800	Strong transcription	HUVEC	blood vessel
9	chr10:49788000-49796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:49788200-49792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:49788200-49792800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:49788200-49795600	Strong transcription	Osteobl	bone
13	chr10:49788200-49795800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr10:49788600-49792600	Strong transcription	NHDF-Ad	bronchial
15	chr10:49788800-49791400	Weak transcription	Brain Angular Gyrus	brain
16	chr10:49788800-49791400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:49788800-49793400	Strong transcription	HSMM	muscle
18	chr10:49788800-49795000	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr10:49788800-49797200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:49789000-49791400	Weak transcription	Colon Smooth Muscle	Colon
21	chr10:49789000-49793000	Strong transcription	NH-A	brain
22	chr10:49789400-49793400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:49789800-49792600	Strong transcription	HSMMtube	muscle
24	chr10:49790000-49791600	Enhancers	Adipose Nuclei	Adipose
25	chr10:49790200-49791400	Strong transcription	Aorta	Aorta
26	chr10:49790200-49791400	Strong transcription	NHLF	lung
27	chr10:49790200-49792000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:49790400-49791400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:49790400-49793000	Weak transcription	Primary B cells from cord blood	blood
30	chr10:49790600-49791400	Enhancers	Ovary	ovary
31	chr10:49790600-49793400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr10:49790600-49794800	Weak transcription	Brain Hippocampus Middle	brain
33	chr10:49790800-49792400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr10:49791000-49792400	Enhancers	Brain Cingulate Gyrus	brain
35	chr10:49791000-49796200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:49791200-49791400	Enhancers	Pancreas	Pancrea
37	chr10:49791200-49791400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr10:49791200-49791400	Enhancers	Spleen	Spleen
39	chr10:49791200-49792200	Enhancers	Brain Anterior Caudate	brain
40	chr10:49791200-49793600	Weak transcription	HMEC	breast

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