Variant report

Variant	nsv465398
Chromosome Location	chr8:4681869-4685954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 368 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:368 , 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	rs10156221	chr8:4681869-4681870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183272301	chr8:4681877-4681878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372018014	chr8:4681891-4681892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576902692	chr8:4681925-4681926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186187311	chr8:4681933-4681934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562559828	chr8:4681935-4681936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190467399	chr8:4681937-4681938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114059258	chr8:4681952-4681953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151210090	chr8:4681958-4681959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140390422	chr8:4681963-4681964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113555707	chr8:4681967-4681968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112800768	chr8:4681974-4681975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10156226	chr8:4681981-4681982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550797771	chr8:4682010-4682011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147557627	chr8:4682021-4682022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35919088	chr8:4682034-4682035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536484854	chr8:4682043-4682044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555195968	chr8:4682069-4682070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112810740	chr8:4682080-4682081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534477264	chr8:4682096-4682097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559268121	chr8:4682120-4682121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145841724	chr8:4682132-4682133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182809750	chr8:4682153-4682154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562486365	chr8:4682186-4682187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373332805	chr8:4682201-4682202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114563799	chr8:4682204-4682205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559900513	chr8:4682234-4682235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187960881	chr8:4682241-4682242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192767378	chr8:4682242-4682243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182508933	chr8:4682253-4682254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116429934	chr8:4682266-4682267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200014690	chr8:4682268-4682269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569297768	chr8:4682269-4682270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7830637	chr8:4682277-4682278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558875136	chr8:4682288-4682289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548831780	chr8:4682325-4682326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567083291	chr8:4682338-4682339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572644171	chr8:4682339-4682340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73181561	chr8:4682347-4682348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558999652	chr8:4682348-4682349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571117434	chr8:4682354-4682355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114387745	chr8:4682358-4682359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558912488	chr8:4682359-4682360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187738748	chr8:4682372-4682373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541541689	chr8:4682375-4682376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553423747	chr8:4682382-4682383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555275219	chr8:4682395-4682396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113936535	chr8:4682397-4682398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545551745	chr8:4682411-4682412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564263430	chr8:4682415-4682416	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4681200-4693800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:4684600-4685200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:4684800-4685200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:4685000-4685200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:4685800-4686000	Enhancers	HUES48 Cell Line	embryonic stem cell

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