Variant report

Variant	rs11562824
Chromosome Location	chr8:118952474-118952475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10808490	0.83[YRI][hapmap];0.97[AFR][1000 genomes]
rs17505016	0.83[YRI][hapmap]
rs17505030	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
2	chr8:118946400-118953000	Enhancers	NHLF	lung
3	chr8:118946800-118958600	Weak transcription	Pancreas	Pancrea
4	chr8:118947000-118956000	Weak transcription	Gastric	stomach
5	chr8:118947400-118952800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:118947400-118953200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:118947400-118960600	Weak transcription	Right Ventricle	heart
8	chr8:118947600-118953000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:118947800-118952800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:118949200-118954400	Enhancers	HMEC	breast
11	chr8:118949400-118954400	Enhancers	HUVEC	blood vessel
12	chr8:118950000-118958800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:118950200-118952800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:118950200-118953200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:118950200-118953400	Weak transcription	Fetal Kidney	kidney
16	chr8:118950400-118952600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:118950400-118952600	Weak transcription	Adipose Nuclei	Adipose
18	chr8:118950400-118952800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:118950400-118952800	Weak transcription	Placenta	Placenta
20	chr8:118950400-118953000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:118950400-118953000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:118950400-118953200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:118950400-118953200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:118950400-118953200	Weak transcription	A549	lung
25	chr8:118950400-118955800	Weak transcription	Stomach Mucosa	stomach
26	chr8:118950400-118956000	Weak transcription	Fetal Thymus	thymus
27	chr8:118950400-118956200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:118950400-118958600	Weak transcription	Fetal Heart	heart
29	chr8:118950400-118958600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:118950400-118958600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:118950400-118960200	Weak transcription	Psoas Muscle	Psoas
32	chr8:118950600-118952600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:118950600-118952800	Weak transcription	Fetal Lung	lung
34	chr8:118950600-118953000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:118950600-118953200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:118950600-118953200	Weak transcription	Fetal Intestine Small	intestine
37	chr8:118950600-118953200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:118950600-118956000	Weak transcription	Fetal Intestine Large	intestine
39	chr8:118950600-118958000	Weak transcription	HepG2	liver
40	chr8:118950600-118958200	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:118950600-118960600	Weak transcription	Ovary	ovary
42	chr8:118950800-118953200	Weak transcription	Liver	Liver
43	chr8:118950800-118956000	Weak transcription	Small Intestine	intestine
44	chr8:118950800-118959200	Weak transcription	Fetal Stomach	stomach
45	chr8:118951000-118952800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:118951000-118952800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:118951200-118954200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:118951200-118954400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:118951200-118954400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:118951400-118954000	Enhancers	HUES6 Cell Line	embryonic stem cell

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