Variant report

Variant	esv3342382
Chromosome Location	chr8:4978444-4982842
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: 490 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190174990	chr8:4978485-4978486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182357176	chr8:4978496-4978497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529439856	chr8:4978520-4978521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117198369	chr8:4978540-4978541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202142930	chr8:4978542-4978543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143075539	chr8:4978564-4978565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376800730	chr8:4978568-4978569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577642114	chr8:4978577-4978578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533311083	chr8:4978581-4978582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551795755	chr8:4978594-4978595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570366973	chr8:4978603-4978604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144764902	chr8:4978607-4978608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537645391	chr8:4978611-4978612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555575830	chr8:4978620-4978621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73661864	chr8:4978626-4978627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76905169	chr8:4978636-4978637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73661865	chr8:4978641-4978642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs117326820	chr8:4978657-4978658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73661866	chr8:4978660-4978661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370460991	chr8:4978663-4978664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115097661	chr8:4978682-4978683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73661867	chr8:4978697-4978698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561075620	chr8:4978705-4978706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528265991	chr8:4978709-4978710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73661868	chr8:4978712-4978713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73661869	chr8:4978714-4978715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148586851	chr8:4978739-4978740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551799249	chr8:4978744-4978745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569935141	chr8:4978755-4978756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531126579	chr8:4978766-4978767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73661870	chr8:4978767-4978768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370478678	chr8:4978775-4978776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144478680	chr8:4978786-4978787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377497729	chr8:4978792-4978793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187353323	chr8:4978797-4978798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386721452	chr8:4978804-4978805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79008236	chr8:4978815-4978816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386721453	chr8:4978888-4978889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74734555	chr8:4978891-4978892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115839096	chr8:4978894-4978895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542963801	chr8:4978929-4978930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146550980	chr8:4978943-4978944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370029759	chr8:4978946-4978947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141251775	chr8:4978957-4978958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548259123	chr8:4978968-4978969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537505623	chr8:4978982-4978983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77035725	chr8:4978984-4978985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564928686	chr8:4978986-4978987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190939846	chr8:4978988-4978989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180922034	chr8:4978991-4978992	Weak transcription	n/a	n/a	Overlapped CNVs	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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