Variant report

Variant	esv3434433
Chromosome Location	chr8:4574094-4575992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149671580	chr8:4574094-4574095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374962599	chr8:4574096-4574097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539378593	chr8:4574115-4574116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369375647	chr8:4574122-4574123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552741130	chr8:4574125-4574126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75730905	chr8:4574152-4574153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559743326	chr8:4574174-4574175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551636391	chr8:4574193-4574194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148438926	chr8:4574205-4574206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571545848	chr8:4574217-4574218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117332655	chr8:4574247-4574248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375784356	chr8:4574248-4574249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558147289	chr8:4574311-4574312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566614572	chr8:4574316-4574317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75382671	chr8:4574331-4574332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181384926	chr8:4574335-4574336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10503271	chr8:4574339-4574340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs13282018	chr8:4574428-4574429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533761359	chr8:4574436-4574437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537463883	chr8:4574446-4574447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555096376	chr8:4574447-4574448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551060162	chr8:4574450-4574451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570967221	chr8:4574452-4574453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144815466	chr8:4574477-4574478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530471533	chr8:4574496-4574497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548561824	chr8:4574506-4574507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560683637	chr8:4574516-4574517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1673267	chr8:4574531-4574532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs114905948	chr8:4574540-4574541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374395642	chr8:4574553-4574554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558710738	chr8:4574555-4574556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571320372	chr8:4574575-4574576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532444190	chr8:4574578-4574579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78910727	chr8:4574610-4574611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377550994	chr8:4574616-4574617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186621910	chr8:4574617-4574618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537480625	chr8:4574629-4574630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34135903	chr8:4574635-4574636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs374791332	chr8:4574645-4574646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77774459	chr8:4574661-4574662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553543519	chr8:4574674-4574675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572512502	chr8:4574677-4574678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189456798	chr8:4574683-4574684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545581435	chr8:4574692-4574693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557273206	chr8:4574710-4574711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147942955	chr8:4574728-4574729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141754355	chr8:4574735-4574736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180909816	chr8:4574747-4574748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528204915	chr8:4574768-4574769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539907109	chr8:4574791-4574792	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
Breast cancer	21364760	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
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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4570600-4586800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:4573200-4574200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:4573400-4574200	Enhancers	Brain Hippocampus Middle	brain
4	chr8:4573600-4574200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:4573600-4574200	Enhancers	Brain Inferior Temporal Lobe	brain

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