Variant report

Variant	esv2752254
Chromosome Location	chr8:3910096-3921141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1137 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:1137 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2554541	chr8:3910096-3910097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572660667	chr8:3910103-3910104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188873462	chr8:3910106-3910107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564804739	chr8:3910131-3910132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577098092	chr8:3910141-3910142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111855756	chr8:3910155-3910156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181969620	chr8:3910172-3910173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17068773	chr8:3910187-3910188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114630015	chr8:3910194-3910195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548268361	chr8:3910205-3910206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186206492	chr8:3910208-3910209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550403904	chr8:3910209-3910210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139406880	chr8:3910210-3910211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369403046	chr8:3910221-3910222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150064788	chr8:3910224-3910225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369595023	chr8:3910250-3910251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531937098	chr8:3910265-3910266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550145899	chr8:3910269-3910270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568402650	chr8:3910275-3910276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189924616	chr8:3910276-3910277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528418735	chr8:3910287-3910288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553802188	chr8:3910288-3910289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs118055719	chr8:3910295-3910296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533723825	chr8:3910303-3910304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567866048	chr8:3910305-3910306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372829839	chr8:3910316-3910317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558358845	chr8:3910319-3910320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144202031	chr8:3910328-3910329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376226178	chr8:3910336-3910337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148723080	chr8:3910337-3910338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374581389	chr8:3910341-3910342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556433462	chr8:3910350-3910351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143660917	chr8:3910357-3910358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180809888	chr8:3910367-3910368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17068774	chr8:3910398-3910399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550624311	chr8:3910409-3910410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76754903	chr8:3910426-3910427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186255044	chr8:3910427-3910428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2554540	chr8:3910428-3910429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2740888	chr8:3910441-3910442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568738842	chr8:3910472-3910473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554622200	chr8:3910473-3910474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547423813	chr8:3910476-3910477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146811572	chr8:3910480-3910481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114030709	chr8:3910481-3910482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112397940	chr8:3910497-3910498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558710464	chr8:3910504-3910505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190890733	chr8:3910536-3910537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183084405	chr8:3910539-3910540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556158130	chr8:3910541-3910542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Pancreatic ductal adenocarcinoma	19077451	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
Schizophrenia	23813976	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3909000-3922000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:3909400-3911600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:3911600-3912600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:3918000-3920400	Enhancers	Fetal Heart	heart
5	chr8:3918200-3918400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:3918400-3919400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:3919400-3919800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:3919400-3919800	Enhancers	Liver	Liver
9	chr8:3919400-3919800	Enhancers	Fetal Intestine Small	intestine
10	chr8:3919400-3919800	Enhancers	Pancreas	Pancrea
11	chr8:3919400-3920000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:3919600-3919800	Enhancers	Adipose Nuclei	Adipose
13	chr8:3919800-3922000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:3920000-3923000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:3920400-3937000	Weak transcription	Fetal Heart	heart

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