Variant report

Variant	nsv438021
Chromosome Location	chr8:4185750-4196180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 989 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:989 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1847570	chr8:4185750-4185751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201193948	chr8:4185760-4185761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56770992	chr8:4185761-4185762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3067534	chr8:4185782-4185783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71534392	chr8:4185784-4185785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549491428	chr8:4185806-4185807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142547117	chr8:4185815-4185816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528894289	chr8:4185828-4185829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190777691	chr8:4185829-4185830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181974755	chr8:4185841-4185842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539762626	chr8:4185842-4185843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558316955	chr8:4185847-4185848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146870921	chr8:4185851-4185852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537539816	chr8:4185852-4185853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145888930	chr8:4185855-4185856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58604762	chr8:4185876-4185877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377508960	chr8:4185927-4185928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148926156	chr8:4185946-4185947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541370135	chr8:4185965-4185966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186189034	chr8:4185966-4185967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572269538	chr8:4185978-4185979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11778035	chr8:4185991-4185992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569355625	chr8:4185995-4185996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1847571	chr8:4186013-4186014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190464664	chr8:4186040-4186041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547627736	chr8:4186045-4186046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531446698	chr8:4186073-4186074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546522361	chr8:4186081-4186082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566613479	chr8:4186086-4186087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543103333	chr8:4186094-4186095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561402544	chr8:4186110-4186111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528956524	chr8:4186114-4186115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143673539	chr8:4186118-4186119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60323710	chr8:4186122-4186123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535812430	chr8:4186129-4186130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555777177	chr8:4186140-4186141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551836518	chr8:4186143-4186144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570254190	chr8:4186144-4186145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370474003	chr8:4186152-4186153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78611440	chr8:4186153-4186154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34769806	chr8:4186172-4186173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397703636	chr8:4186177-4186178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141878413	chr8:4186189-4186190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181553999	chr8:4186198-4186199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567736074	chr8:4186224-4186225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145064678	chr8:4186235-4186236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534823089	chr8:4186241-4186242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553314755	chr8:4186249-4186250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577980876	chr8:4186279-4186280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539714606	chr8:4186283-4186284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Schizophrenia	21346763	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4171000-4188800	Weak transcription	Pancreas	Pancrea
2	chr8:4187800-4189800	Enhancers	Fetal Intestine Large	intestine
3	chr8:4188200-4188800	Enhancers	Liver	Liver
4	chr8:4188200-4190000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:4188200-4190000	Enhancers	Brain Germinal Matrix	brain
6	chr8:4188400-4190000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:4188400-4190000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:4188400-4190000	Enhancers	Stomach Mucosa	stomach
9	chr8:4188600-4188800	Enhancers	Duodenum Mucosa	Duodenum
10	chr8:4188600-4189000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:4188600-4189800	Enhancers	Dnd41	blood
12	chr8:4188600-4190000	Enhancers	Brain Anterior Caudate	brain
13	chr8:4188800-4189000	Flanking Active TSS	Liver	Liver
14	chr8:4188800-4189200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:4188800-4189400	Enhancers	Fetal Intestine Small	intestine
16	chr8:4188800-4189600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:4188800-4189800	Enhancers	Brain Hippocampus Middle	brain
18	chr8:4188800-4189800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr8:4188800-4190000	Enhancers	Brain Angular Gyrus	brain
20	chr8:4188800-4190000	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:4188800-4190200	Enhancers	Pancreas	Pancrea
22	chr8:4189000-4189200	Enhancers	Liver	Liver
23	chr8:4189000-4189200	Enhancers	Small Intestine	intestine
24	chr8:4189000-4189800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:4189200-4189400	Flanking Active TSS	Liver	Liver
26	chr8:4189400-4189600	Weak transcription	Fetal Intestine Small	intestine
27	chr8:4189400-4191400	Enhancers	Liver	Liver
28	chr8:4189600-4189800	Enhancers	Brain Substantia Nigra	brain
29	chr8:4189600-4189800	Enhancers	Duodenum Mucosa	Duodenum
30	chr8:4189600-4190000	Enhancers	Fetal Intestine Small	intestine
31	chr8:4189800-4190000	Enhancers	Gastric	stomach
32	chr8:4189800-4190000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:4189800-4190000	Enhancers	Small Intestine	intestine
34	chr8:4189800-4190200	Enhancers	Fetal Brain Male	brain
35	chr8:4189800-4194400	Weak transcription	Fetal Intestine Large	intestine
36	chr8:4189800-4195400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:4190000-4194200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:4190000-4194200	Weak transcription	Fetal Intestine Small	intestine
39	chr8:4190000-4194200	Weak transcription	Stomach Mucosa	stomach
40	chr8:4190000-4194400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:4190000-4195400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:4190000-4199600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:4190200-4191200	Weak transcription	Pancreas	Pancrea
44	chr8:4191200-4191600	Enhancers	Pancreas	Pancrea
45	chr8:4191400-4191600	Enhancers	Gastric	stomach
46	chr8:4191400-4194600	Weak transcription	Liver	Liver
47	chr8:4191600-4193800	Weak transcription	Pancreas	Pancrea
48	chr8:4193800-4194200	Enhancers	Pancreas	Pancrea
49	chr8:4194000-4194800	Enhancers	Gastric	stomach
50	chr8:4194200-4194800	Enhancers	Stomach Mucosa	stomach

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