Variant report

Variant	nsv971623
Chromosome Location	chr8:6902724-6904462
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	chr8:6899597..6901934-chr8:6903996..6906474,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533429585	chr8:6902724-6902725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543954649	chr8:6902749-6902750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35075552	chr8:6902755-6902756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563797628	chr8:6902757-6902758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116292150	chr8:6902784-6902785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79984980	chr8:6902811-6902812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568261130	chr8:6902815-6902816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527585127	chr8:6902820-6902821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547037189	chr8:6902835-6902836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570136004	chr8:6902856-6902857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4260915	chr8:6902866-6902867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542073512	chr8:6902878-6902879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555825707	chr8:6902882-6902883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569452923	chr8:6902894-6902895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4260916	chr8:6902903-6902904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575651866	chr8:6902909-6902910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116569360	chr8:6902919-6902920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191152526	chr8:6902940-6902941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139763460	chr8:6902950-6902951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371578403	chr8:6902955-6902956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558154040	chr8:6902981-6902982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578052793	chr8:6903001-6903002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183687309	chr8:6903014-6903015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369850310	chr8:6903024-6903025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376266340	chr8:6903070-6903071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149787272	chr8:6903094-6903095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529455268	chr8:6903117-6903118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145761952	chr8:6903135-6903136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4379464	chr8:6903148-6903149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188204618	chr8:6903155-6903156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546991848	chr8:6903166-6903167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570447692	chr8:6903167-6903168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112129518	chr8:6903174-6903175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375692506	chr8:6903185-6903186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569367910	chr8:6903205-6903206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192554122	chr8:6903209-6903210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528361837	chr8:6903212-6903213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555649961	chr8:6903232-6903233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543884895	chr8:6903239-6903240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566281672	chr8:6903240-6903241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548090153	chr8:6903248-6903249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534931213	chr8:6903278-6903279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558471972	chr8:6903279-6903280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578259556	chr8:6903286-6903287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144225836	chr8:6903341-6903342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34169335	chr8:6903368-6903369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397812529	chr8:6903375-6903376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398067546	chr8:6903376-6903377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377322824	chr8:6903377-6903378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557394130	chr8:6903378-6903379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6901600-6903600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:6903600-6905200	Enhancers	Primary neutrophils fromperipheralblood	blood

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