Variant report

Variant	nsv967514
Chromosome Location	chr8:6136813-6145129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6139049..6141857-chr8:6147372..6149538,2	K562	blood:

Extended variants
information (count: 615 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546950155	chr8:6136820-6136821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539080091	chr8:6136823-6136824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150089341	chr8:6136825-6136826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560452034	chr8:6136837-6136838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532570519	chr8:6136901-6136902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111648926	chr8:6136977-6136978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569259174	chr8:6136991-6136992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375262125	chr8:6136994-6136995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538378960	chr8:6136995-6136996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73192642	chr8:6137050-6137051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191378899	chr8:6137064-6137065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13279879	chr8:6137069-6137070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554061185	chr8:6137070-6137071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577094785	chr8:6137084-6137085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538259610	chr8:6137123-6137124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111235903	chr8:6137141-6137142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558488585	chr8:6137161-6137162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555530826	chr8:6137167-6137168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575127814	chr8:6137200-6137201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544322328	chr8:6137225-6137226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562749493	chr8:6137259-6137260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560948606	chr8:6137263-6137264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574699594	chr8:6137287-6137288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540398036	chr8:6137297-6137298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560696652	chr8:6137306-6137307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138305509	chr8:6137322-6137323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575756082	chr8:6137330-6137331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183906395	chr8:6137331-6137332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562950683	chr8:6137343-6137344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188688165	chr8:6137345-6137346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192074120	chr8:6137403-6137404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544644389	chr8:6137409-6137410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564443158	chr8:6137423-6137424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13279978	chr8:6137428-6137429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs527902927	chr8:6137430-6137431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62505544	chr8:6137441-6137442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531452622	chr8:6137470-6137471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376387947	chr8:6137471-6137472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138950192	chr8:6137501-6137502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13253806	chr8:6137510-6137511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185085778	chr8:6137559-6137560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190017697	chr8:6137591-6137592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545336471	chr8:6137602-6137603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560498184	chr8:6137614-6137615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4840659	chr8:6137639-6137640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554725116	chr8:6137664-6137665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182240884	chr8:6137684-6137685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540434540	chr8:6137699-6137700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554046793	chr8:6137731-6137732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561819125	chr8:6137738-6137739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6132800-6149000	Weak transcription	Spleen	Spleen
2	chr8:6138400-6141200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:6140200-6140400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr8:6140800-6141000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr8:6141200-6141400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:6141400-6144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:6144400-6144600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:6144600-6147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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