Variant report

Variant	esv3369475
Chromosome Location	chr8:34845610-34847708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145124007	chr8:34845613-34845614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571616459	chr8:34845652-34845653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567066909	chr8:34845659-34845660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534435250	chr8:34845682-34845683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372839421	chr8:34845683-34845684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571040941	chr8:34845691-34845692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192301742	chr8:34845734-34845735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118008241	chr8:34845738-34845739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536789463	chr8:34845765-34845766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554646922	chr8:34845799-34845800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552807526	chr8:34845843-34845844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576469561	chr8:34845864-34845865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537449883	chr8:34845912-34845913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114947032	chr8:34845916-34845917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138961721	chr8:34845921-34845922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571131911	chr8:34845960-34845961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556849045	chr8:34845972-34845973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538172996	chr8:34845996-34845997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183252445	chr8:34846026-34846027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572023866	chr8:34846034-34846035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370786036	chr8:34846051-34846052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542678763	chr8:34846104-34846105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560666939	chr8:34846122-34846123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80177834	chr8:34846162-34846163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556506981	chr8:34846175-34846176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574771080	chr8:34846211-34846212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34924037	chr8:34846245-34846246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34232641	chr8:34846294-34846295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs117209598	chr8:34846348-34846349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200610773	chr8:34846403-34846404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547663623	chr8:34846417-34846418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566293579	chr8:34846549-34846550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111721278	chr8:34846565-34846566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372512484	chr8:34846578-34846579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572220126	chr8:34846623-34846624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536470609	chr8:34846638-34846639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188811665	chr8:34846661-34846662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201552492	chr8:34846681-34846682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371187181	chr8:34846743-34846744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537437310	chr8:34846747-34846748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs137959203	chr8:34846757-34846758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577987235	chr8:34846767-34846768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538952534	chr8:34846772-34846773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35236808	chr8:34846782-34846783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545545362	chr8:34846796-34846797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553801953	chr8:34846834-34846835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144533549	chr8:34846837-34846838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572172352	chr8:34846864-34846865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542468252	chr8:34846921-34846922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560601949	chr8:34846935-34846936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
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
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
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	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
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34844400-34847800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:34844400-34848000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:34844400-34853200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:34844400-34857400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:34845400-34848000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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