Variant report

Variant	esv3373651
Chromosome Location	chr8:39876895-39881093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:164 , 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	rs183458184	chr8:39876917-39876918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142249836	chr8:39876947-39876948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565258015	chr8:39876965-39876966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79732371	chr8:39877030-39877031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139489545	chr8:39877050-39877051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187297414	chr8:39877088-39877089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370096198	chr8:39877098-39877099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531267870	chr8:39877112-39877113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551188036	chr8:39877123-39877124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571191306	chr8:39877128-39877129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533567055	chr8:39877141-39877142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7818136	chr8:39877164-39877165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191939372	chr8:39877165-39877166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536595435	chr8:39877176-39877177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184408559	chr8:39877182-39877183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576313367	chr8:39877198-39877199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150037515	chr8:39877215-39877216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112988814	chr8:39877243-39877244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572538437	chr8:39877251-39877252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7817203	chr8:39877258-39877259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7836154	chr8:39877259-39877260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377250824	chr8:39877261-39877262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574784981	chr8:39877270-39877271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369143454	chr8:39877289-39877290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543712848	chr8:39877301-39877302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563490960	chr8:39877305-39877306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144687983	chr8:39877340-39877341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551425452	chr8:39877351-39877352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7836303	chr8:39877386-39877387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527410864	chr8:39877421-39877422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139403940	chr8:39877459-39877460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567312479	chr8:39877460-39877461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536511022	chr8:39877476-39877477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550103466	chr8:39877486-39877487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193262068	chr8:39877514-39877515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184299360	chr8:39877528-39877529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558743307	chr8:39877536-39877537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572442790	chr8:39877551-39877552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535158064	chr8:39877596-39877597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554500748	chr8:39877617-39877618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574492766	chr8:39877622-39877623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7818920	chr8:39877642-39877643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7818934	chr8:39877659-39877660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552560932	chr8:39877697-39877698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4305883	chr8:39877724-39877725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559945005	chr8:39877758-39877759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143641280	chr8:39877781-39877782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201971273	chr8:39877794-39877795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547524311	chr8:39877807-39877808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570769649	chr8:39877815-39877816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cancer	20164919	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39868000-39879400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:39879400-39879800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:39879600-39879800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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