Variant report

Variant	esv1798189
Chromosome Location	chr8:51814690-51817642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6987928	chr8:51814690-51814691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541871605	chr8:51814780-51814781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554260011	chr8:51814783-51814784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35491688	chr8:51814820-51814821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145507553	chr8:51814822-51814823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570944974	chr8:51814848-51814849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550967742	chr8:51814863-51814864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546208511	chr8:51814872-51814873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564623422	chr8:51814890-51814891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571181218	chr8:51814892-51814893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532086203	chr8:51814947-51814948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544139203	chr8:51814958-51814959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562217797	chr8:51814967-51814968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145214892	chr8:51814976-51814977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547479903	chr8:51814984-51814985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368217198	chr8:51814993-51814994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372387551	chr8:51815006-51815007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551401397	chr8:51815011-51815012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147650141	chr8:51815050-51815051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142288593	chr8:51815088-51815089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555243243	chr8:51815105-51815106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377171154	chr8:51815109-51815110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79635214	chr8:51815195-51815196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181199791	chr8:51815205-51815206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567788118	chr8:51815221-51815222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185641494	chr8:51815257-51815258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553956120	chr8:51815277-51815278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72647190	chr8:51815348-51815349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188591162	chr8:51815383-51815384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558092347	chr8:51815395-51815396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576508135	chr8:51815406-51815407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200632055	chr8:51815414-51815415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544101103	chr8:51815420-51815421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562383346	chr8:51815422-51815423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71235330	chr8:51815431-51815432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368632631	chr8:51815445-51815446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73679927	chr8:51815470-51815471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4873161	chr8:51815533-51815534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369271493	chr8:51815539-51815540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533086495	chr8:51815589-51815590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72647192	chr8:51815686-51815687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372106959	chr8:51815718-51815719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374841414	chr8:51815733-51815734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569260153	chr8:51815739-51815740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386412726	chr8:51815748-51815749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57678193	chr8:51815749-51815750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76058759	chr8:51815750-51815751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181617881	chr8:51815767-51815768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148299632	chr8:51815778-51815779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35748457	chr8:51815813-51815814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Lung cancer	18438408	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
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51811800-51816400	Weak transcription	Fetal Lung	lung
2	chr8:51816400-51817400	Enhancers	Fetal Lung	lung

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