Variant report

Variant	esv3332027
Chromosome Location	chr8:4807860-4808462
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	chr8:4805755..4808307-chr8:4809361..4811905,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193060787	chr8:4807866-4807867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116463171	chr8:4807869-4807870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112650342	chr8:4807874-4807875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9987218	chr8:4807888-4807889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545167837	chr8:4807899-4807900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7005169	chr8:4807919-4807920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575508592	chr8:4807937-4807938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185477844	chr8:4807940-4807941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187495636	chr8:4807941-4807942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73513878	chr8:4807958-4807959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546921335	chr8:4807990-4807991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140798459	chr8:4807993-4807994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143299590	chr8:4807994-4807995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528976460	chr8:4808002-4808003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550396254	chr8:4808068-4808069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192000282	chr8:4808072-4808073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184198285	chr8:4808088-4808089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188576441	chr8:4808100-4808101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541023436	chr8:4808111-4808112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566740123	chr8:4808148-4808149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534065531	chr8:4808155-4808156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532145735	chr8:4808185-4808186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548697714	chr8:4808186-4808187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146691057	chr8:4808218-4808219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577101859	chr8:4808226-4808227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562725488	chr8:4808241-4808242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7004535	chr8:4808243-4808244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs386721422	chr8:4808253-4808254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6987219	chr8:4808254-4808255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542618232	chr8:4808268-4808269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371753331	chr8:4808283-4808284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560929210	chr8:4808292-4808293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7005677	chr8:4808310-4808311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540520011	chr8:4808319-4808320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7005814	chr8:4808333-4808334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181021588	chr8:4808373-4808374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551160815	chr8:4808385-4808386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141357543	chr8:4808386-4808387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184214258	chr8:4808387-4808388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190815809	chr8:4808393-4808394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182051320	chr8:4808396-4808397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533810057	chr8:4808399-4808400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7004731	chr8:4808405-4808406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186094901	chr8:4808457-4808458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536731049	chr8:4808459-4808460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190507969	chr8:4808460-4808461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575508318	chr8:4808462-4808463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4807400-4811200	Weak transcription	Adipose Nuclei	Adipose

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