Variant report

Variant	rs4320911
Chromosome Location	chr10:49793554-49793555
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	POLR2A	chr10:49793286-49794417	U87	brain:	n/a	n/a
2	POLR2A	chr10:49793287-49794294	U87	brain:	n/a	n/a
3	CBX3	chr10:49793180-49793569	K562	blood:	n/a	n/a

Variant related genes	Relation type
ARHGAP22	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10491036	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491037	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491038	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491039	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10745279	0.98[EUR][1000 genomes]
rs1075811	1.00[JPT][hapmap]
rs11593803	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1373786	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1373792	1.00[JPT][hapmap]
rs1445167	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs17010841	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010845	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814474	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1838577	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1838578	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2120909	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2377518	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2377519	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2377520	1.00[ASN][1000 genomes]
rs2889659	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3843000	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3843001	1.00[JPT][hapmap]
rs3844200	1.00[JPT][hapmap]
rs3851549	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851551	1.00[ASN][1000 genomes]
rs41281993	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41281995	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4282942	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4375396	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4572084	1.00[ASN][1000 genomes]
rs4838427	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838628	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838629	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59135459	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61092407	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61235893	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7075804	1.00[JPT][hapmap]
rs7085095	1.00[JPT][hapmap]
rs73300277	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73300278	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73300297	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130570	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909968	1.00[JPT][hapmap]
rs7911853	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs870353	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935264	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs935285	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935287	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935288	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935291	1.00[JPT][hapmap]

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	chr10:49791200-49793600	Weak transcription	HMEC	breast
10	chr10:49791400-49793800	Weak transcription	NHLF	lung
11	chr10:49791400-49798400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr10:49792000-49793600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:49792200-49796600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:49792200-49797200	Weak transcription	Brain Anterior Caudate	brain
15	chr10:49792400-49795800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:49792400-49795800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:49792400-49796400	Weak transcription	Brain Angular Gyrus	brain
18	chr10:49792600-49795000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:49792600-49795200	Weak transcription	NHDF-Ad	bronchial
20	chr10:49792600-49796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:49792800-49794400	Weak transcription	Brain Substantia Nigra	brain
22	chr10:49792800-49796800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:49792800-49796800	Weak transcription	HUVEC	blood vessel
24	chr10:49793000-49794200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:49793200-49793600	ZNF genes & repeats	Gastric	stomach
26	chr10:49793200-49795800	Weak transcription	Left Ventricle	heart
27	chr10:49793400-49793800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:49793400-49794000	ZNF genes & repeats	HSMMtube	muscle
29	chr10:49793400-49794000	ZNF genes & repeats	NH-A	brain
30	chr10:49793400-49794200	Enhancers	Primary B cells from peripheral blood	blood
31	chr10:49793400-49794600	ZNF genes & repeats	HSMM	muscle
32	chr10:49793400-49794800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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