Variant report

Variant	esv1816186
Chromosome Location	chr8:1332299-1335340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 265 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182179122	chr8:1332303-1332304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530238701	chr8:1332308-1332309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538165268	chr8:1332317-1332318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558113319	chr8:1332331-1332332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577297996	chr8:1332337-1332338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375176349	chr8:1332343-1332344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548683381	chr8:1332355-1332356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539885190	chr8:1332356-1332357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563711153	chr8:1332399-1332400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573260240	chr8:1332405-1332406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542369833	chr8:1332423-1332424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530921886	chr8:1332431-1332432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562161070	chr8:1332434-1332435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368030617	chr8:1332437-1332438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12682491	chr8:1332444-1332445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112615893	chr8:1332454-1332455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112777176	chr8:1332462-1332463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187143086	chr8:1332467-1332468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191584952	chr8:1332468-1332469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111875035	chr8:1332469-1332470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201357063	chr8:1332495-1332496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539848749	chr8:1332498-1332499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55864518	chr8:1332510-1332511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369957997	chr8:1332511-1332512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560149879	chr8:1332526-1332527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528992827	chr8:1332533-1332534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs55962666	chr8:1332572-1332573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549131259	chr8:1332583-1332584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568938702	chr8:1332584-1332585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71528647	chr8:1332594-1332595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55851046	chr8:1332595-1332596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369521141	chr8:1332614-1332615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112856681	chr8:1332628-1332629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372923628	chr8:1332637-1332638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55680579	chr8:1332665-1332666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75669977	chr8:1332679-1332680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs68084829	chr8:1332714-1332715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71497195	chr8:1332719-1332720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71497191	chr8:1332720-1332721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62484191	chr8:1332721-1332722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74194202	chr8:1332734-1332735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71497190	chr8:1332736-1332737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74206354	chr8:1332741-1332742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71497194	chr8:1332753-1332754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372986895	chr8:1332762-1332763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376961148	chr8:1332763-1332764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531572763	chr8:1332783-1332784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71183715	chr8:1332793-1332794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79639671	chr8:1332805-1332806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77926450	chr8:1332819-1332820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	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
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1315800-1336800	Weak transcription	Right Atrium	heart
2	chr8:1331600-1332400	Enhancers	Cortex derived primary cultured neurospheres	brain

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