Variant report

Variant	rs11101152
Chromosome Location	chr10:50748561-50748562
allele	A/C
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	EGR1	chr10:50748517-50748740	K562	blood:	n/a	n/a
2	EGR1	chr10:50748479-50748820	K562	blood:	n/a	n/a
3	IRF1	chr10:50748492-50748592	K562	blood:	n/a	n/a
4	SPI1	chr10:50748453-50748685	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:50737860..50742863-chr10:50744224..50749108,7	MCF-7	breast:
2	chr10:50746990..50749930-chr10:50758500..50760326,2	MCF-7	breast:
3	chr10:50738435..50741425-chr10:50746279..50748741,3	MCF-7	breast:

Variant related genes	Relation type
PGBD3	TF binding region
ERCC6-PGBD3	TF binding region
ERCC6	TF binding region
ENSG00000271237	Chromatin interaction
ENSG00000225830	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10857494	0.82[ASN][1000 genomes]
rs10857495	0.82[ASN][1000 genomes]
rs10857496	0.83[ASN][1000 genomes]
rs10857498	0.87[ASN][1000 genomes]
rs10857500	0.87[ASN][1000 genomes]
rs10857512	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10857513	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10857514	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10857515	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10857516	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11101133	0.81[ASN][1000 genomes]
rs11101137	0.83[ASN][1000 genomes]
rs11101167	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11101168	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11101170	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11101171	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11101172	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11101174	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11527805	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12219170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12219670	0.82[ASN][1000 genomes]
rs12220085	0.89[ASN][1000 genomes]
rs12221460	0.83[ASN][1000 genomes]
rs12244804	0.82[ASN][1000 genomes]
rs12259435	0.88[ASN][1000 genomes]
rs12411620	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12415597	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17177717	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2281794	0.89[ASN][1000 genomes]
rs28454254	0.83[ASN][1000 genomes]
rs3750748	0.89[ASN][1000 genomes]
rs3750749	0.86[ASN][1000 genomes]
rs3810945	0.83[ASN][1000 genomes]
rs4253004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253013	0.90[ASN][1000 genomes]
rs4253040	0.89[ASN][1000 genomes]
rs4253043	0.90[ASN][1000 genomes]
rs4253060	0.89[ASN][1000 genomes]
rs4253095	0.89[ASN][1000 genomes]
rs4253138	0.87[ASN][1000 genomes]
rs4253145	0.87[ASN][1000 genomes]
rs4253215	0.83[ASN][1000 genomes]
rs60981594	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61143747	0.81[ASN][1000 genomes]
rs73297748	0.83[ASN][1000 genomes]
rs73305562	0.83[ASN][1000 genomes]
rs7909342	0.86[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50747600-50748800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr10:50748000-50748600	Enhancers	HUVEC	blood vessel
3	chr10:50748000-50748800	Enhancers	Primary B cells from cord blood	blood
4	chr10:50748000-50748800	Enhancers	Primary B cells from peripheral blood	blood
5	chr10:50748000-50748800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr10:50748000-50748800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:50748000-50750800	Weak transcription	Right Atrium	heart
8	chr10:50748200-50748800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:50748200-50749200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:50748200-50749200	Enhancers	K562	blood
11	chr10:50748200-50752800	Weak transcription	Hela-S3	cervix
12	chr10:50748400-50748800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr10:50748400-50749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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