Variant report

Variant	esv1819101
Chromosome Location	chr8:1358711-1360702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188411170	chr8:1358711-1358712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140328226	chr8:1358729-1358730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555111751	chr8:1358743-1358744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376329982	chr8:1358744-1358745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568572641	chr8:1358768-1358769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141335284	chr8:1358776-1358777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77032134	chr8:1358784-1358785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1019022	chr8:1358791-1358792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575074867	chr8:1358801-1358802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150802896	chr8:1358816-1358817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535999142	chr8:1358825-1358826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139133069	chr8:1358843-1358844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557128709	chr8:1358844-1358845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541574985	chr8:1358850-1358851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74388125	chr8:1358862-1358863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116829079	chr8:1358870-1358871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149931934	chr8:1358889-1358890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146320911	chr8:1358894-1358895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532532924	chr8:1358913-1358914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530515988	chr8:1358918-1358919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552579369	chr8:1358925-1358926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191101887	chr8:1358926-1358927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75243463	chr8:1358938-1358939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548398594	chr8:1358948-1358949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568636963	chr8:1358951-1358952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537288319	chr8:1358956-1358957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77445949	chr8:1358984-1358985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371532515	chr8:1358999-1359000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544611536	chr8:1359000-1359001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183766296	chr8:1359016-1359017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200651937	chr8:1359017-1359018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35231551	chr8:1359021-1359022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188246835	chr8:1359033-1359034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1019023	chr8:1359035-1359036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76057211	chr8:1359060-1359061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541859880	chr8:1359066-1359067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139612322	chr8:1359081-1359082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193261135	chr8:1359090-1359091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2404294	chr8:1359107-1359108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561589448	chr8:1359109-1359110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529052721	chr8:1359114-1359115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76486446	chr8:1359127-1359128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550656197	chr8:1359134-1359135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78488540	chr8:1359135-1359136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183210914	chr8:1359145-1359146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17680989	chr8:1359156-1359157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79569694	chr8:1359159-1359160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548654124	chr8:1359203-1359204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80116293	chr8:1359220-1359221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530988657	chr8:1359223-1359224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1357800-1359600	Weak transcription	Fetal Brain Male	brain
2	chr8:1359600-1360600	Enhancers	Fetal Brain Male	brain
3	chr8:1360400-1361200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr8:1360600-1361200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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