Variant report

Variant	nsv609884
Chromosome Location	chr8:4635345-4638038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 222 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12676164	chr8:4635345-4635346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539559800	chr8:4635347-4635348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180707797	chr8:4635367-4635368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6992941	chr8:4635373-4635374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138806841	chr8:4635385-4635386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142827309	chr8:4635388-4635389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113371651	chr8:4635397-4635398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551177355	chr8:4635427-4635428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569597809	chr8:4635430-4635431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530412233	chr8:4635434-4635435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370550823	chr8:4635439-4635440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199915908	chr8:4635449-4635450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548247626	chr8:4635452-4635453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566302480	chr8:4635455-4635456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186570920	chr8:4635456-4635457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35777583	chr8:4635465-4635466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191028662	chr8:4635466-4635467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373986016	chr8:4635475-4635476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571912631	chr8:4635481-4635482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75026704	chr8:4635488-4635489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372187140	chr8:4635494-4635495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80266136	chr8:4635495-4635496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17432165	chr8:4635553-4635554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541162469	chr8:4635559-4635560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28665194	chr8:4635572-4635573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144602252	chr8:4635584-4635585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370562517	chr8:4635591-4635592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17432178	chr8:4635598-4635599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs118130440	chr8:4635677-4635678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17071298	chr8:4635690-4635691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577388352	chr8:4635702-4635703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75048748	chr8:4635703-4635704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369794563	chr8:4635732-4635733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142698285	chr8:4635734-4635735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183560025	chr8:4635741-4635742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528665770	chr8:4635763-4635764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548551962	chr8:4635801-4635802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370446819	chr8:4635823-4635824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116638932	chr8:4635827-4635828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527257572	chr8:4635841-4635842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551804217	chr8:4635866-4635867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188598610	chr8:4635868-4635869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191446010	chr8:4635869-4635870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537546436	chr8:4635870-4635871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562220538	chr8:4635873-4635874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549607872	chr8:4635876-4635877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2045398	chr8:4635878-4635879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs17071303	chr8:4635890-4635891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2045397	chr8:4635908-4635909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539501266	chr8:4635932-4635933	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4630800-4637000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:4631600-4638800	Weak transcription	Brain Angular Gyrus	brain
3	chr8:4635800-4636800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:4636000-4636200	Enhancers	Fetal Kidney	kidney
5	chr8:4636200-4637000	Weak transcription	Fetal Kidney	kidney
6	chr8:4636600-4639000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:4636800-4638000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:4637000-4637800	Enhancers	Rectal Smooth Muscle	rectum
9	chr8:4637000-4638000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:4637000-4638000	Enhancers	Brain Cingulate Gyrus	brain
11	chr8:4637000-4638600	Enhancers	Fetal Kidney	kidney
12	chr8:4637000-4639000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:4637200-4637600	Enhancers	Fetal Brain Female	brain
14	chr8:4637200-4637800	Enhancers	Fetal Brain Male	brain
15	chr8:4637200-4638000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:4637200-4638000	Enhancers	Colon Smooth Muscle	Colon
17	chr8:4637200-4639000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:4637400-4638000	Enhancers	Fetal Stomach	stomach
19	chr8:4637600-4638800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:4638000-4638400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:4638000-4639000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:4638000-4639200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:4638000-4639600	Weak transcription	Brain Cingulate Gyrus	brain

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