Variant report

Variant	rs11562760
Chromosome Location	chr8:119064802-119064803
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11562685	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11562722	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11562726	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562730	0.81[YRI][hapmap];0.83[AMR][1000 genomes]
rs11562757	0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11562759	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11562762	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562815	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476840	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17476847	0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17476854	0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17476861	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17505659	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59103602	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	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
7	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119055200-119065400	Weak transcription	HepG2	liver
2	chr8:119056000-119066200	Weak transcription	Right Ventricle	heart
3	chr8:119057000-119068400	Weak transcription	Hela-S3	cervix
4	chr8:119057800-119065800	Weak transcription	Fetal Intestine Small	intestine
5	chr8:119057800-119065800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:119058800-119065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:119058800-119065000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:119059600-119065000	Weak transcription	Spleen	Spleen
9	chr8:119061000-119066000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:119061200-119066000	Weak transcription	Small Intestine	intestine
11	chr8:119061600-119065800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:119061800-119065000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:119062000-119066400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:119062000-119067400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:119062000-119072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:119062200-119065000	Weak transcription	Gastric	stomach
17	chr8:119062200-119065000	Weak transcription	Ovary	ovary
18	chr8:119062200-119065000	Weak transcription	Pancreas	Pancrea
19	chr8:119062200-119066200	Weak transcription	Psoas Muscle	Psoas
20	chr8:119062200-119066200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:119062200-119068400	Weak transcription	Left Ventricle	heart
22	chr8:119062200-119068600	Weak transcription	Right Atrium	heart
23	chr8:119062200-119068600	Weak transcription	Stomach Mucosa	stomach
24	chr8:119062200-119068800	Weak transcription	Esophagus	oesophagus
25	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:119062400-119065000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:119062600-119065600	Weak transcription	Fetal Intestine Large	intestine
28	chr8:119062800-119065000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:119062800-119065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:119062800-119065000	Weak transcription	Aorta	Aorta
31	chr8:119062800-119065000	Weak transcription	A549	lung
32	chr8:119062800-119065400	Weak transcription	Liver	Liver
33	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
34	chr8:119063600-119066600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:119063800-119065000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:119063800-119065400	Enhancers	HSMMtube	muscle
37	chr8:119063800-119065400	Genic enhancers	NHEK	skin
38	chr8:119063800-119066800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:119063800-119066800	Enhancers	NH-A	brain
40	chr8:119063800-119067000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr8:119064000-119065000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:119064000-119065000	Enhancers	NHLF	lung
43	chr8:119064000-119065600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:119064000-119065600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:119064000-119066600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:119064000-119069400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr8:119064000-119070600	Enhancers	HMEC	breast
48	chr8:119064200-119065600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr8:119064200-119065800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr8:119064200-119066000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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