Variant report

Variant	esv3424235
Chromosome Location	chr8:4979069-4981917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:4980625..4983115-chr8:4989976..4992212,2	K562	blood:

Extended variants
information (count: 363 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73661873	chr8:4979071-4979072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571736264	chr8:4979072-4979073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143563249	chr8:4979080-4979081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577530701	chr8:4979086-4979087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550373639	chr8:4979091-4979092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151286472	chr8:4979092-4979093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115904518	chr8:4979128-4979129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140491948	chr8:4979150-4979151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540100369	chr8:4979166-4979167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377380441	chr8:4979190-4979191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573220441	chr8:4979214-4979215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535092825	chr8:4979219-4979220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114370887	chr8:4979226-4979227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558732893	chr8:4979251-4979252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150351759	chr8:4979253-4979254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545485533	chr8:4979268-4979269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554546162	chr8:4979270-4979271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185324875	chr8:4979291-4979292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575324524	chr8:4979297-4979298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138008500	chr8:4979300-4979301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560922974	chr8:4979319-4979320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528791002	chr8:4979328-4979329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546947107	chr8:4979360-4979361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575017711	chr8:4979361-4979362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11995220	chr8:4979375-4979376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532552509	chr8:4979390-4979391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73181694	chr8:4979396-4979397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569014530	chr8:4979401-4979402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111236224	chr8:4979402-4979403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548236186	chr8:4979414-4979415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371133359	chr8:4979422-4979423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374153280	chr8:4979455-4979456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377175134	chr8:4979507-4979508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566460710	chr8:4979516-4979517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534116427	chr8:4979521-4979522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544315555	chr8:4979523-4979524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190132509	chr8:4979529-4979530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182715117	chr8:4979546-4979547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555934469	chr8:4979551-4979552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188635367	chr8:4979555-4979556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542694569	chr8:4979565-4979566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560959836	chr8:4979566-4979567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573130684	chr8:4979574-4979575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540418256	chr8:4979576-4979577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11774126	chr8:4979583-4979584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530844217	chr8:4979608-4979609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146234133	chr8:4979617-4979618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544867204	chr8:4979622-4979623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563051568	chr8:4979670-4979671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73661874	chr8:4979674-4979675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4976200-4983400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:4979800-4980200	ZNF genes & repeats	Pancreas	Pancrea
3	chr8:4979800-4981000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr8:4979800-4981000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:4979800-4981000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr8:4980000-4980200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:4980000-4980400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:4980800-4981000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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