Variant report

Variant	rs11101358
Chromosome Location	chr10:49723402-49723403
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	SETDB1	chr10:49722066-49723587	U2OS	brain:	n/a	n/a
2	KAP1	chr10:49721884-49723636	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49723375..49726156-chr10:49734098..49735696,2	K562	blood:
2	chr10:49714562..49719396-chr10:49719920..49724610,6	K562	blood:
3	chr10:49574821..49576525-chr10:49722125..49725054,2	K562	blood:
4	chr10:49715021..49718761-chr10:49720982..49725227,3	K562	blood:

Variant related genes	Relation type
ARHGAP22-IT1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10745277	0.87[ASN][1000 genomes]
rs10776607	0.88[ASN][1000 genomes]
rs10776608	0.87[ASN][1000 genomes]
rs10776609	0.88[ASN][1000 genomes]
rs10776610	0.88[ASN][1000 genomes]
rs10857583	0.88[ASN][1000 genomes]
rs10857584	0.87[ASN][1000 genomes]
rs10857585	0.88[ASN][1000 genomes]
rs10857586	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857590	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11101343	0.88[ASN][1000 genomes]
rs11101370	0.87[ASN][1000 genomes]
rs11101371	0.87[ASN][1000 genomes]
rs11101373	0.83[ASN][1000 genomes]
rs12249815	0.87[ASN][1000 genomes]
rs12265171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1814471	0.85[ASN][1000 genomes]
rs4838412	0.87[ASN][1000 genomes]
rs4838607	0.88[ASN][1000 genomes]
rs4838611	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55665699	0.87[ASN][1000 genomes]
rs57632129	0.83[ASN][1000 genomes]
rs7913593	0.83[ASN][1000 genomes]
rs7913612	0.88[ASN][1000 genomes]
rs9971117	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	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49714000-49727200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:49715800-49727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:49717400-49726200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:49718200-49723600	Weak transcription	HUVEC	blood vessel
6	chr10:49719400-49725800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:49720800-49726600	Weak transcription	Osteobl	bone
8	chr10:49721000-49724200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:49721400-49724000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:49721400-49724000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:49721400-49732000	Weak transcription	HMEC	breast
12	chr10:49721600-49725600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:49721800-49725000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:49723000-49723600	Weak transcription	HSMM	muscle
15	chr10:49723200-49724000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:49723400-49723800	ZNF genes & repeats	NHDF-Ad	bronchial
17	chr10:49723400-49724000	ZNF genes & repeats	NH-A	brain

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