Variant report

Variant	rs11562757
Chromosome Location	chr8:119073541-119073542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119073070..119075037-chr8:119078486..119081201,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10088632	1.00[CEU][hapmap]
rs11562685	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562722	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562726	0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11562730	1.00[CEU][hapmap]
rs11562759	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562760	0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11562762	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11562766	1.00[CEU][hapmap]
rs11562815	0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17475323	1.00[CEU][hapmap]
rs17475358	1.00[CEU][hapmap]
rs17475365	1.00[CEU][hapmap]
rs17475694	1.00[CEU][hapmap]
rs17475722	1.00[CEU][hapmap]
rs17475743	1.00[CEU][hapmap]
rs17475785	1.00[CEU][hapmap]
rs17475918	1.00[CEU][hapmap]
rs17476247	1.00[CEU][hapmap]
rs17476840	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476847	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476854	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476861	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17477049	1.00[CEU][hapmap]
rs17504170	1.00[CEU][hapmap]
rs17504205	1.00[CEU][hapmap]
rs17504743	1.00[CEU][hapmap]
rs17505079	1.00[CEU][hapmap]
rs17505659	0.96[YRI][hapmap];0.99[AFR][1000 genomes]
rs4377987	1.00[CEU][hapmap]
rs4556109	1.00[CEU][hapmap]
rs59103602	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6984750	1.00[CEU][hapmap]
rs7357537	1.00[CEU][hapmap]
rs7462118	1.00[CEU][hapmap]
rs9297572	1.00[CEU][hapmap]
rs9656924	1.00[CEU][hapmap]

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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
3	chr8:119065600-119074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:119065600-119079600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:119066000-119076000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:119066200-119074600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:119066200-119077600	Weak transcription	Fetal Intestine Small	intestine
8	chr8:119066800-119077600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:119066800-119077600	Weak transcription	HepG2	liver
10	chr8:119068000-119076000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:119068000-119077400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:119068000-119085600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:119069000-119074400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:119069000-119081200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:119069200-119074400	Weak transcription	Right Ventricle	heart
16	chr8:119069200-119078000	Weak transcription	Gastric	stomach
17	chr8:119069200-119078000	Weak transcription	Pancreas	Pancrea
18	chr8:119069200-119081200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
20	chr8:119069400-119075400	Weak transcription	HSMM	muscle
21	chr8:119069400-119077600	Weak transcription	A549	lung
22	chr8:119069600-119074000	Weak transcription	HUVEC	blood vessel
23	chr8:119069600-119075400	Weak transcription	NH-A	brain
24	chr8:119069800-119080200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:119071200-119075800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:119071200-119076000	Enhancers	Aorta	Aorta
27	chr8:119071600-119075600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:119072200-119075600	Genic enhancers	Osteobl	bone
29	chr8:119072200-119076000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr8:119072400-119073600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:119072400-119074000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr8:119072600-119073600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:119072600-119074000	Enhancers	Placenta	Placenta
34	chr8:119072600-119074000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr8:119072600-119075800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:119072600-119075800	Enhancers	Adipose Nuclei	Adipose
37	chr8:119072800-119073600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:119072800-119073800	Enhancers	Psoas Muscle	Psoas
39	chr8:119072800-119073800	Enhancers	GM12878-XiMat	blood
40	chr8:119072800-119073800	Enhancers	NHDF-Ad	bronchial
41	chr8:119072800-119074000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:119072800-119074000	Enhancers	Colon Smooth Muscle	Colon
43	chr8:119072800-119074000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr8:119072800-119074200	Enhancers	Stomach Mucosa	stomach
45	chr8:119072800-119074800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr8:119072800-119076400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:119072800-119080400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:119073000-119073600	Enhancers	Primary hematopoietic stem cells	blood
49	chr8:119073000-119073600	Enhancers	Rectal Smooth Muscle	rectum
50	chr8:119073000-119073800	Enhancers	Small Intestine	intestine

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