Variant report

Variant	rs11591393
Chromosome Location	chr10:50775731-50775732
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50770715..50773687-chr10:50775612..50777273,2	K562	blood:
2	chr10:50769095..50771417-chr10:50774522..50778090,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10776575	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10776581	0.87[ASN][1000 genomes]
rs10776583	0.82[EUR][1000 genomes]
rs10857504	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10857506	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857510	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101144	0.84[AMR][1000 genomes]
rs11101155	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12146288	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1917803	0.84[ASN][1000 genomes]
rs1917820	0.83[EUR][1000 genomes]
rs1917821	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2177819	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2229760	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2281792	0.85[AMR][1000 genomes]
rs2281793	0.85[AMR][1000 genomes]
rs2377900	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3750747	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3793784	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4253234	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6537540	0.87[ASN][1000 genomes]
rs7081472	0.87[ASN][1000 genomes]
rs7895633	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7898545	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7921810	0.80[EUR][1000 genomes]
rs9988727	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50771800-50776200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:50771800-50779400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:50772600-50776000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:50773000-50776000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:50773000-50776000	Weak transcription	HSMMtube	muscle
6	chr10:50773200-50776200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:50773400-50775800	Weak transcription	Osteobl	bone
8	chr10:50773400-50776000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr10:50775600-50775800	Flanking Active TSS	Hela-S3	cervix
10	chr10:50775600-50776000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:50775600-50776200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr10:50775600-50776400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:50775600-50776400	Enhancers	HMEC	breast
14	chr10:50775600-50776600	Enhancers	GM12878-XiMat	blood
15	chr10:50775600-50777000	Enhancers	HSMM	muscle
16	chr10:50775600-50777400	Enhancers	Primary B cells from peripheral blood	blood
17	chr10:50775600-50778800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:50775600-50780400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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