Variant report

Variant	nsv890026
Chromosome Location	chr8:5825194-5850799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 550 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2700797	chr8:5825194-5825195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149383994	chr8:5825230-5825231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534760624	chr8:5825239-5825240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34615837	chr8:5825247-5825248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559943719	chr8:5825248-5825249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35915541	chr8:5825250-5825251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs180932859	chr8:5825281-5825282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556825231	chr8:5825292-5825293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575163914	chr8:5825293-5825294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369783963	chr8:5825307-5825308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2703320	chr8:5825316-5825317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560874698	chr8:5825325-5825326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2816429	chr8:5825329-5825330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs13258226	chr8:5825330-5825331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148466145	chr8:5825350-5825351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75040887	chr8:5825353-5825354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73515929	chr8:5825402-5825403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544208702	chr8:5825413-5825414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549556476	chr8:5825434-5825435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567712710	chr8:5825450-5825451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531582119	chr8:5825465-5825466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535158066	chr8:5825481-5825482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13269249	chr8:5825487-5825488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571333074	chr8:5825495-5825496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74746782	chr8:5825517-5825518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17075432	chr8:5825519-5825520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575182113	chr8:5825541-5825542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536118607	chr8:5825559-5825560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2700796	chr8:5825561-5825562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142614578	chr8:5825565-5825566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79124325	chr8:5825567-5825568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139977019	chr8:5825568-5825569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2703321	chr8:5825570-5825571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73515931	chr8:5825604-5825605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2703322	chr8:5825640-5825641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs386721651	chr8:5825663-5825664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143447518	chr8:5825664-5825665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561573413	chr8:5825666-5825667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34895317	chr8:5825691-5825692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117000158	chr8:5825692-5825693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117305664	chr8:5825693-5825694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117702527	chr8:5825694-5825695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117901679	chr8:5825695-5825696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550573278	chr8:5825697-5825698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568902950	chr8:5825729-5825730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536596635	chr8:5825739-5825740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113793342	chr8:5825748-5825749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374762329	chr8:5825750-5825751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554545457	chr8:5825760-5825761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566694213	chr8:5825769-5825770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
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
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
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5821800-5827000	Weak transcription	Fetal Lung	lung
2	chr8:5822200-5826600	Weak transcription	Fetal Heart	heart
3	chr8:5826600-5827400	Flanking Active TSS	Fetal Heart	heart
4	chr8:5827000-5827400	Enhancers	Fetal Lung	lung
5	chr8:5827000-5828200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:5827200-5828000	Enhancers	Fetal Muscle Leg	muscle
7	chr8:5827400-5828600	Enhancers	Fetal Heart	heart
8	chr8:5827600-5827800	Enhancers	Fetal Stomach	stomach
9	chr8:5828000-5828200	Enhancers	Liver	Liver
10	chr8:5828600-5830400	Weak transcription	Fetal Heart	heart
11	chr8:5830400-5831200	Enhancers	Fetal Heart	heart
12	chr8:5847200-5847600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:5847800-5848200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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