Variant report

Variant	rs11591281
Chromosome Location	chr10:49720644-49720645
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	chr10:49720176-49721069	U87	brain:	n/a	n/a
2	POLR2A	chr10:49720154-49721069	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49718293..49721279-chr10:50504590..50507564,3	K562	blood:
2	chr10:49714562..49719396-chr10:49719920..49724610,6	K562	blood:
3	chr10:49719894..49722832-chr10:49724239..49726454,2	MCF-7	breast:

Variant related genes	Relation type
ARHGAP22-IT1	TF binding region
ENSG00000177354	Chromatin interaction
ENSG00000236208	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10491040	0.81[ASN][1000 genomes]
rs10776614	0.86[ASN][1000 genomes]
rs10776615	0.86[ASN][1000 genomes]
rs10857592	1.00[ASN][1000 genomes]
rs10857596	0.86[ASN][1000 genomes]
rs10857598	0.81[ASN][1000 genomes]
rs11101362	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101364	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101368	1.00[ASN][1000 genomes]
rs11101377	0.81[ASN][1000 genomes]
rs11101381	0.86[ASN][1000 genomes]
rs12358311	0.86[ASN][1000 genomes]
rs12358315	0.86[ASN][1000 genomes]
rs12412164	0.81[ASN][1000 genomes]
rs1345109	0.86[ASN][1000 genomes]
rs1345110	0.86[ASN][1000 genomes]
rs1345111	0.86[ASN][1000 genomes]
rs1445148	0.86[ASN][1000 genomes]
rs1445154	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1838568	0.86[ASN][1000 genomes]
rs1838569	0.86[ASN][1000 genomes]
rs1838570	0.86[ASN][1000 genomes]
rs1838573	0.93[ASN][1000 genomes]
rs1838574	0.90[ASN][1000 genomes]
rs1900021	0.93[ASN][1000 genomes]
rs1965170	0.86[ASN][1000 genomes]
rs2077152	0.86[ASN][1000 genomes]
rs34983450	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4084916	0.81[ASN][1000 genomes]
rs4101278	0.93[ASN][1000 genomes]
rs41510345	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4450130	1.00[ASN][1000 genomes]
rs4838617	0.81[ASN][1000 genomes]
rs56058334	0.86[ASN][1000 genomes]
rs56080723	0.93[ASN][1000 genomes]
rs56248718	0.93[ASN][1000 genomes]
rs57601353	1.00[ASN][1000 genomes]
rs60214846	0.80[ASN][1000 genomes]
rs66695288	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67372461	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071095	0.86[ASN][1000 genomes]
rs7071480	0.86[ASN][1000 genomes]
rs7074631	0.86[ASN][1000 genomes]
rs7085183	0.86[ASN][1000 genomes]
rs7085335	0.84[ASN][1000 genomes]
rs7088010	0.86[ASN][1000 genomes]
rs7089439	0.95[ASN][1000 genomes]
rs7094216	0.86[ASN][1000 genomes]
rs7098068	0.86[ASN][1000 genomes]
rs72785120	0.93[ASN][1000 genomes]
rs7350424	0.86[ASN][1000 genomes]
rs7350439	0.86[ASN][1000 genomes]
rs7904456	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv516006	chr10:49707942-49723300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49706000-49723400	Weak transcription	NH-A	brain
3	chr10:49714000-49727200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:49715800-49727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:49716800-49721400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:49717200-49721400	Weak transcription	HSMM	muscle
7	chr10:49717400-49721000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:49717400-49721200	Weak transcription	HMEC	breast
9	chr10:49717400-49726200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:49718200-49723600	Weak transcription	HUVEC	blood vessel
11	chr10:49718400-49720800	Strong transcription	Osteobl	bone
12	chr10:49719200-49721200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:49719200-49721200	Weak transcription	NHLF	lung
14	chr10:49719200-49721400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr10:49719400-49721000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:49719400-49721000	Enhancers	Fetal Stomach	stomach
17	chr10:49719400-49721200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:49719400-49721400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:49719400-49725800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:49719600-49721000	Enhancers	Adipose Nuclei	Adipose
21	chr10:49719600-49721600	Enhancers	GM12878-XiMat	blood
22	chr10:49719800-49720800	Enhancers	Brain Cingulate Gyrus	brain
23	chr10:49719800-49721000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:49719800-49721400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr10:49719800-49721600	Enhancers	K562	blood
26	chr10:49720200-49721400	Weak transcription	NHDF-Ad	bronchial
27	chr10:49720600-49721000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:49720600-49721000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr10:49720600-49721400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:49720600-49721400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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