Variant report

Variant	esv10115
Chromosome Location	chr8:50330931-50348468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 398 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567372730	chr8:50332038-50332039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191242030	chr8:50332057-50332058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17730041	chr8:50332064-50332065	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139074339	chr8:50332070-50332071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78123296	chr8:50332142-50332143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554232653	chr8:50332165-50332166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572818506	chr8:50332180-50332181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181268793	chr8:50332218-50332219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538867162	chr8:50332294-50332295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565245721	chr8:50332295-50332296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185637328	chr8:50332300-50332301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544447084	chr8:50332326-50332327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562619109	chr8:50332332-50332333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201292197	chr8:50332333-50332334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552787765	chr8:50332379-50332380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371600720	chr8:50332380-50332381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374578760	chr8:50332381-50332382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560260915	chr8:50332417-50332418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75197439	chr8:50332454-50332455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527692042	chr8:50332462-50332463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3206318	chr8:50332481-50332482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546878647	chr8:50332509-50332510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78981962	chr8:50332517-50332518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571610474	chr8:50332521-50332522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78325331	chr8:50332523-50332524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76797439	chr8:50332533-50332534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77598440	chr8:50332556-50332557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375873889	chr8:50332587-50332588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550823363	chr8:50332607-50332608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568959041	chr8:50332608-50332609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386725129	chr8:50332616-50332617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1674232	chr8:50332655-50332656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554650637	chr8:50332711-50332712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572710131	chr8:50332740-50332741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569494795	chr8:50332741-50332742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533823949	chr8:50332776-50332777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558818829	chr8:50332800-50332801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1621105	chr8:50332803-50332804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140999871	chr8:50332810-50332811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562711015	chr8:50332821-50332822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575001090	chr8:50332850-50332851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199497431	chr8:50332851-50332852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541914125	chr8:50332875-50332876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143520452	chr8:50332882-50332883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200795313	chr8:50332888-50332889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35477832	chr8:50332889-50332890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554576681	chr8:50332930-50332931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546266288	chr8:50332931-50332932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190441275	chr8:50332939-50332940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574569034	chr8:50332943-50332944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50332000-50332200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:50332200-50338400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:50338400-50338600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:50339600-50340400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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