Variant report

Variant	esv1652930
Chromosome Location	chr8:1197610-1198058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552394060	chr8:1197611-1197612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34819236	chr8:1197615-1197616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377237744	chr8:1197628-1197629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561656514	chr8:1197630-1197631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199746378	chr8:1197637-1197638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200686495	chr8:1197638-1197639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143282925	chr8:1197640-1197641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140632829	chr8:1197654-1197655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371611965	chr8:1197661-1197662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62489186	chr8:1197676-1197677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113039978	chr8:1197679-1197680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113835549	chr8:1197689-1197690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375589732	chr8:1197706-1197707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368302043	chr8:1197716-1197717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111854991	chr8:1197721-1197722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112660487	chr8:1197725-1197726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111586823	chr8:1197728-1197729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138990751	chr8:1197733-1197734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368142654	chr8:1197735-1197736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544284539	chr8:1197736-1197737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372073103	chr8:1197738-1197739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564074498	chr8:1197740-1197741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573954606	chr8:1197758-1197759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377003350	chr8:1197759-1197760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112736037	chr8:1197770-1197771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376415900	chr8:1197774-1197775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367748027	chr8:1197775-1197776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372223078	chr8:1197778-1197779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376806561	chr8:1197784-1197785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112330714	chr8:1197787-1197788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556284033	chr8:1197809-1197810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545233745	chr8:1197813-1197814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547333677	chr8:1197814-1197815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113337269	chr8:1197815-1197816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184622906	chr8:1197826-1197827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72507635	chr8:1197828-1197829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529492709	chr8:1197835-1197836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187896927	chr8:1197836-1197837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569295849	chr8:1197838-1197839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72507636	chr8:1197844-1197845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184545147	chr8:1197850-1197851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571844858	chr8:1197859-1197860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372885000	chr8:1197865-1197866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111792995	chr8:1197870-1197871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192570065	chr8:1197874-1197875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184955296	chr8:1197877-1197878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188950501	chr8:1197885-1197886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181679719	chr8:1197887-1197888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112351935	chr8:1197890-1197891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189616152	chr8:1197902-1197903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1197200-1198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:1197200-1199200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:1197200-1201800	Weak transcription	Gastric	stomach
4	chr8:1197400-1201600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:1197400-1202000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:1197400-1202000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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