Variant report

Variant	esv3447347
Chromosome Location	chr8:49086458-49087079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58618466	chr8:49086466-49086467	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575016133	chr8:49086484-49086485	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187874217	chr8:49086495-49086496	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs143001858	chr8:49086511-49086512	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs111348021	chr8:49086518-49086519	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs139049086	chr8:49086521-49086522	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs144411540	chr8:49086527-49086528	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs151138509	chr8:49086536-49086537	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376314572	chr8:49086541-49086542	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs368610453	chr8:49086546-49086547	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138857108	chr8:49086552-49086553	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs116642633	chr8:49086557-49086558	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs200788050	chr8:49086558-49086559	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs117800350	chr8:49086563-49086564	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs76618003	chr8:49086567-49086568	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4989990	chr8:49086574-49086575	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147832552	chr8:49086577-49086578	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77099086	chr8:49086587-49086588	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200816903	chr8:49086599-49086600	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs386725067	chr8:49086604-49086605	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201486576	chr8:49086625-49086626	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs28676293	chr8:49086642-49086643	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547469062	chr8:49086645-49086646	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs201782253	chr8:49086657-49086658	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200192552	chr8:49086695-49086696	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4873787	chr8:49086724-49086725	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs200651599	chr8:49086737-49086738	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112321217	chr8:49086745-49086746	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs377262348	chr8:49086759-49086760	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs117313424	chr8:49086774-49086775	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572472354	chr8:49086782-49086783	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs545872013	chr8:49086800-49086801	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs570169522	chr8:49086827-49086828	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs67441342	chr8:49086950-49086951	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576645665	chr8:49087010-49087011	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549336502	chr8:49087031-49087032	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544022038	chr8:49087057-49087058	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
22q11 deletion syndrome	20357662	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49082400-49086600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:49082600-49088400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:49084400-49090600	Enhancers	Fetal Stomach	stomach
4	chr8:49084600-49086800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:49084800-49088000	Weak transcription	Osteobl	bone
6	chr8:49085200-49087200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:49085200-49087400	Weak transcription	Liver	Liver
8	chr8:49085200-49087600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:49085200-49087800	Weak transcription	Stomach Mucosa	stomach
10	chr8:49085200-49087800	Weak transcription	NHEK	skin
11	chr8:49085200-49088000	Weak transcription	Adipose Nuclei	Adipose
12	chr8:49085200-49088200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:49085200-49088200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:49085200-49088200	Weak transcription	HepG2	liver
15	chr8:49085200-49098400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:49085400-49086600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:49085600-49086600	Enhancers	Fetal Brain Male	brain
18	chr8:49085600-49087400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:49085600-49088200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:49085800-49087800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:49086400-49086600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:49086400-49086800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr8:49086400-49086800	Enhancers	Brain Anterior Caudate	brain
24	chr8:49086400-49086800	ZNF genes & repeats	Fetal Kidney	kidney
25	chr8:49086400-49086800	Flanking Active TSS	Fetal Lung	lung
26	chr8:49086400-49088800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:49086400-49089000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:49086600-49086800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:49086600-49086800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:49086600-49086800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
31	chr8:49086600-49087000	Active TSS	Fetal Brain Male	brain
32	chr8:49086600-49087000	Enhancers	Pancreas	Pancrea
33	chr8:49086600-49087200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:49086600-49087200	Enhancers	Gastric	stomach
35	chr8:49086600-49089200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:49086800-49087000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:49086800-49087000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:49086800-49087200	Enhancers	Colonic Mucosa	Colon
39	chr8:49086800-49087200	Enhancers	Esophagus	oesophagus
40	chr8:49086800-49087200	Weak transcription	Fetal Kidney	kidney
41	chr8:49086800-49088200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:49086800-49088800	Weak transcription	Brain Anterior Caudate	brain
43	chr8:49086800-49088800	Enhancers	Fetal Lung	lung
44	chr8:49086800-49089000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:49087000-49087200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:49087000-49088200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:49087000-49088200	Weak transcription	Pancreas	Pancrea

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