Variant report

Variant	esv3479334
Chromosome Location	chr8:62512746-62515491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538782418	chr8:62512752-62512753	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114995386	chr8:62512803-62512804	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572994028	chr8:62512805-62512806	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540418201	chr8:62512880-62512881	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555376218	chr8:62512883-62512884	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575754424	chr8:62512914-62512915	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544708246	chr8:62512940-62512941	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573559250	chr8:62512945-62512946	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117985355	chr8:62513003-62513004	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562116712	chr8:62513048-62513049	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182360755	chr8:62513072-62513073	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139516480	chr8:62513153-62513154	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200261023	chr8:62513193-62513194	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370032911	chr8:62513196-62513197	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560186372	chr8:62513201-62513202	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187678254	chr8:62513307-62513308	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549511234	chr8:62513340-62513341	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545231909	chr8:62513348-62513349	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373789321	chr8:62513385-62513386	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574987369	chr8:62513431-62513432	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532013314	chr8:62513432-62513433	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375752661	chr8:62513455-62513456	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62508861	chr8:62513561-62513562	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs144186159	chr8:62513574-62513575	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539013897	chr8:62513619-62513620	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554019744	chr8:62513623-62513624	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566117403	chr8:62513636-62513637	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146583064	chr8:62513769-62513770	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555110347	chr8:62513821-62513822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs191214164	chr8:62513868-62513869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs140982608	chr8:62513869-62513870	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556024359	chr8:62513883-62513884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149939055	chr8:62513918-62513919	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs207469262	chr8:62513947-62513948	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374101548	chr8:62513956-62513957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs546108416	chr8:62513981-62513982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs544989577	chr8:62513999-62514000	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs559996617	chr8:62514031-62514032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs144999555	chr8:62514055-62514056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531249418	chr8:62514056-62514057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs370984882	chr8:62514116-62514117	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs76068979	chr8:62514118-62514119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs183424141	chr8:62514166-62514167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149123021	chr8:62514189-62514190	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs567770426	chr8:62514200-62514201	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs531923298	chr8:62514229-62514230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187962797	chr8:62514235-62514236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571967217	chr8:62514271-62514272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527404508	chr8:62514286-62514287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192212123	chr8:62514314-62514315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
2	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:62494200-62519400	Weak transcription	Esophagus	oesophagus
4	chr8:62494200-62520400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:62494200-62521400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:62495400-62529000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:62495600-62525800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:62498400-62521200	Weak transcription	Ovary	ovary
9	chr8:62499200-62519400	Weak transcription	Liver	Liver
10	chr8:62503000-62521200	Weak transcription	Aorta	Aorta
11	chr8:62504800-62516600	Weak transcription	NH-A	brain
12	chr8:62504800-62526800	Weak transcription	NHEK	skin
13	chr8:62504800-62536200	Weak transcription	HUVEC	blood vessel
14	chr8:62506200-62528800	Weak transcription	HepG2	liver
15	chr8:62506400-62526200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:62506600-62541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:62508400-62516600	Weak transcription	HSMMtube	muscle
18	chr8:62508400-62516600	Weak transcription	Osteobl	bone
19	chr8:62508800-62517200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:62508800-62520800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:62508800-62549800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:62509000-62516400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:62509000-62516400	Weak transcription	NHLF	lung
24	chr8:62509000-62521400	Weak transcription	Fetal Stomach	stomach
25	chr8:62509000-62523200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:62509200-62517800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:62509200-62520800	Weak transcription	Gastric	stomach
28	chr8:62509200-62521400	Weak transcription	Lung	lung
29	chr8:62509200-62521400	Weak transcription	Pancreas	Pancrea
30	chr8:62509200-62521400	Weak transcription	Spleen	Spleen
31	chr8:62509400-62516000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:62509400-62517200	Weak transcription	Hela-S3	cervix
33	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
34	chr8:62511800-62513000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:62512000-62517800	Weak transcription	Small Intestine	intestine
36	chr8:62512200-62513800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:62512200-62513800	Strong transcription	A549	lung
38	chr8:62512400-62512800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:62512400-62513000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:62512400-62513000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:62512400-62513000	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr8:62512400-62513000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr8:62512400-62513000	ZNF genes & repeats	HSMM	muscle
44	chr8:62512400-62513400	Strong transcription	NHDF-Ad	bronchial
45	chr8:62512400-62513600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:62512600-62513000	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr8:62512600-62513200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:62512800-62517800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:62513000-62515800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:62513000-62516600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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