Variant report

Variant	rs57240873
Chromosome Location	chr8:11390781-11390782
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11389216..11391992-chr8:11394333..11396573,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10903339	0.89[ASN][1000 genomes]
rs11250142	0.88[ASN][1000 genomes]
rs11250143	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11991127	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1382566	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1478897	0.91[ASN][1000 genomes]
rs17153385	0.88[ASN][1000 genomes]
rs2021819	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2248696	0.92[ASN][1000 genomes]
rs2248700	0.92[ASN][1000 genomes]
rs2248932	0.96[ASN][1000 genomes]
rs2249259	0.94[ASN][1000 genomes]
rs2618435	0.98[ASN][1000 genomes]
rs2618437	0.98[ASN][1000 genomes]
rs2618455	0.82[ASN][1000 genomes]
rs2618456	0.83[ASN][1000 genomes]
rs2729934	0.97[ASN][1000 genomes]
rs2729935	0.97[ASN][1000 genomes]
rs2736356	0.83[ASN][1000 genomes]
rs2736359	0.87[ASN][1000 genomes]
rs2736360	0.89[ASN][1000 genomes]
rs2898282	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35451117	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4366049	0.85[ASN][1000 genomes]
rs4841550	0.93[ASN][1000 genomes]
rs58373594	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62489135	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62489136	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62489137	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62489140	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6981617	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7004267	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014565	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73209286	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73209290	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7814834	0.93[ASN][1000 genomes]
rs7828916	0.84[ASN][1000 genomes]
rs7844858	0.98[ASN][1000 genomes]
rs9329246	0.97[ASN][1000 genomes]
rs9657551	0.89[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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11390000-11391000	Enhancers	HSMM	muscle
3	chr8:11390200-11391000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr8:11390200-11391000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:11390200-11391000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:11390200-11391000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr8:11390200-11391000	Enhancers	NHEK	skin
8	chr8:11390200-11391600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr8:11390200-11392200	Flanking Active TSS	GM12878-XiMat	blood
10	chr8:11390400-11390800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:11390400-11391000	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr8:11390400-11391400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:11390400-11392200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:11390400-11392400	Enhancers	Fetal Thymus	thymus
15	chr8:11390600-11390800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:11390600-11391000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:11390600-11391600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:11390600-11391600	Enhancers	Rectal Mucosa Donor 29	rectum

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