Variant report

Variant	esv3347495
Chromosome Location	chr8:1510070-1512918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 256 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:256 , 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	rs149686261	chr8:1510077-1510078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538860039	chr8:1510090-1510091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531051678	chr8:1510091-1510092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546373526	chr8:1510096-1510097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188376555	chr8:1510097-1510098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368709051	chr8:1510104-1510105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572260592	chr8:1510116-1510117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145536069	chr8:1510131-1510132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148820968	chr8:1510132-1510133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528570074	chr8:1510140-1510141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375814666	chr8:1510144-1510145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574009209	chr8:1510145-1510146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546743460	chr8:1510148-1510149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368613678	chr8:1510169-1510170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202133547	chr8:1510201-1510202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542598649	chr8:1510208-1510209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13268571	chr8:1510216-1510217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111774490	chr8:1510233-1510234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111266166	chr8:1510239-1510240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562662147	chr8:1510260-1510261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55797046	chr8:1510274-1510275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2956904	chr8:1510290-1510291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2956905	chr8:1510298-1510299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13268887	chr8:1510335-1510336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112571961	chr8:1510367-1510368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369060782	chr8:1510370-1510371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531645086	chr8:1510372-1510373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180686453	chr8:1510375-1510376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371643296	chr8:1510409-1510410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565512871	chr8:1510410-1510411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527876881	chr8:1510415-1510416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548098019	chr8:1510465-1510466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200858110	chr8:1510487-1510488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201707960	chr8:1510494-1510495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376447604	chr8:1510497-1510498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567847103	chr8:1510502-1510503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200565468	chr8:1510504-1510505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186593268	chr8:1510537-1510538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191340243	chr8:1510544-1510545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369972891	chr8:1510558-1510559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183263010	chr8:1510569-1510570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186881705	chr8:1510574-1510575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79162251	chr8:1510577-1510578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376904025	chr8:1510598-1510599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569772128	chr8:1510609-1510610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369927751	chr8:1510621-1510622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538697672	chr8:1510622-1510623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191764360	chr8:1510623-1510624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145917424	chr8:1510646-1510647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183284547	chr8:1510648-1510649	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1506000-1516000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1507200-1512000	Weak transcription	Fetal Brain Female	brain
3	chr8:1509800-1511000	Weak transcription	Fetal Brain Male	brain
4	chr8:1511000-1514000	Enhancers	Fetal Brain Male	brain
5	chr8:1511400-1512200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:1511600-1513000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:1511600-1513000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:1511600-1513000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:1512000-1512600	Enhancers	Fetal Brain Female	brain

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