Variant report

Variant	nsv1032514
Chromosome Location	chr8:3396338-3423073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1476 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:1476 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9314496	chr8:3396338-3396339	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553863018	chr8:3396353-3396354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115463898	chr8:3396371-3396372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539544963	chr8:3396374-3396375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78605644	chr8:3396392-3396393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184581395	chr8:3396396-3396397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149092427	chr8:3396397-3396398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544145690	chr8:3396402-3396403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556069601	chr8:3396438-3396439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574368425	chr8:3396443-3396444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115193395	chr8:3396464-3396465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541845330	chr8:3396469-3396470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559884838	chr8:3396474-3396475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62475773	chr8:3396509-3396510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114823074	chr8:3396517-3396518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531375343	chr8:3396535-3396536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577430817	chr8:3396554-3396555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143123079	chr8:3396594-3396595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529139533	chr8:3396604-3396605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189899228	chr8:3396607-3396608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148237410	chr8:3396616-3396617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572896874	chr8:3396636-3396637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141308704	chr8:3396652-3396653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570287588	chr8:3396660-3396661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6984932	chr8:3396665-3396666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555983736	chr8:3396683-3396684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554265491	chr8:3396686-3396687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145029146	chr8:3396689-3396690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573369000	chr8:3396692-3396693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535005230	chr8:3396709-3396710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553733199	chr8:3396721-3396722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571907524	chr8:3396723-3396724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180755114	chr8:3396727-3396728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563864681	chr8:3396731-3396732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114245308	chr8:3396733-3396734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141949699	chr8:3396734-3396735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561540398	chr8:3396748-3396749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529188046	chr8:3396772-3396773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542196624	chr8:3396784-3396785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184983894	chr8:3396822-3396823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189838744	chr8:3396828-3396829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6981196	chr8:3396836-3396837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533148751	chr8:3396883-3396884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181871168	chr8:3396900-3396901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570200597	chr8:3396902-3396903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562401281	chr8:3396919-3396920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186277123	chr8:3396924-3396925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373501492	chr8:3396946-3396947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549646065	chr8:3396959-3396960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567813080	chr8:3396973-3396974	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Ovarian cancer	22355333	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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3394400-3396400	Weak transcription	Brain Substantia Nigra	brain
2	chr8:3394400-3396600	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:3395800-3397200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr8:3396200-3397600	Enhancers	Brain Cingulate Gyrus	brain
5	chr8:3396400-3397200	Enhancers	Brain Substantia Nigra	brain
6	chr8:3396600-3397000	Enhancers	Brain Hippocampus Middle	brain
7	chr8:3397000-3397200	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr8:3397200-3397600	Active TSS	Brain Hippocampus Middle	brain
9	chr8:3397200-3397600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr8:3397200-3397800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:3397400-3397800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:3397400-3398000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:3397600-3397800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr8:3397600-3398000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr8:3397600-3401200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:3397800-3398000	Enhancers	Brain Hippocampus Middle	brain
17	chr8:3400000-3400200	Enhancers	Pancreas	Pancrea
18	chr8:3400000-3400600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr8:3406000-3406400	Weak transcription	Spleen	Spleen
20	chr8:3406400-3406800	ZNF genes & repeats	Spleen	Spleen
21	chr8:3408000-3408400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:3408200-3408400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:3408200-3408400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:3408200-3409000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:3408200-3410200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:3408400-3409800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:3408400-3411800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:3408400-3412000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:3409000-3409400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:3409200-3409400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr8:3409400-3410000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:3409400-3410200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:3409400-3410200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:3409400-3410200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:3409400-3410200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:3409400-3410200	Enhancers	Liver	Liver
37	chr8:3409400-3410200	Enhancers	Fetal Lung	lung
38	chr8:3409600-3410200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:3409800-3410200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:3410000-3410200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr8:3410000-3412000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:3410200-3411600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:3410200-3411600	Weak transcription	Liver	Liver
44	chr8:3410200-3412000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:3410200-3412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:3411600-3412800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr8:3411600-3412800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:3411600-3413000	Enhancers	Liver	Liver
49	chr8:3411800-3412000	Enhancers	Fetal Lung	lung
50	chr8:3411800-3412200	Enhancers	Lung	lung

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