Variant report

Variant	esv2753909
Chromosome Location	chr8:51261103-51269514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 351 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:351 , 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	rs10504104	chr8:51261103-51261104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115357744	chr8:51261120-51261121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571682094	chr8:51261131-51261132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554944950	chr8:51261169-51261170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182513014	chr8:51261224-51261225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541095343	chr8:51261230-51261231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553318809	chr8:51261259-51261260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143038432	chr8:51261290-51261291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10086203	chr8:51261357-51261358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563545925	chr8:51261360-51261361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138540625	chr8:51261398-51261399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542807345	chr8:51261489-51261490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561270843	chr8:51261503-51261504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77388504	chr8:51261560-51261561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528764718	chr8:51261561-51261562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113697198	chr8:51261572-51261573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146191361	chr8:51261579-51261580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188280010	chr8:51261589-51261590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532110692	chr8:51261627-51261628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75663197	chr8:51261662-51261663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536853245	chr8:51261687-51261688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9298312	chr8:51261690-51261691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10102970	chr8:51261707-51261708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554782674	chr8:51261718-51261719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534263585	chr8:51261773-51261774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141513568	chr8:51261788-51261789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534062930	chr8:51261790-51261791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11985321	chr8:51261794-51261795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528605774	chr8:51261798-51261799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553115672	chr8:51261818-51261819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373277234	chr8:51261861-51261862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146225642	chr8:51261895-51261896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368662920	chr8:51261906-51261907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557303649	chr8:51261917-51261918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544990230	chr8:51261998-51261999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557078665	chr8:51262050-51262051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202109675	chr8:51262058-51262059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563793531	chr8:51262133-51262134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575309895	chr8:51262191-51262192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577223396	chr8:51262235-51262236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2923059	chr8:51262264-51262265	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139193215	chr8:51262268-51262269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540873971	chr8:51262286-51262287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564735830	chr8:51262321-51262322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532175207	chr8:51262325-51262326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550592973	chr8:51262326-51262327	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142563064	chr8:51262335-51262336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10093114	chr8:51262338-51262339	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548423855	chr8:51262364-51262365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566633728	chr8:51262377-51262378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51243200-51271600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51262200-51262800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:51262200-51263000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:51263000-51264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:51267200-51267400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:51267200-51267400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr8:51267600-51268800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:51267600-51269000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:51268800-51271600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr8:51268800-51271800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr8:51269000-51273800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr8:51269400-51270000	Enhancers	Spleen	Spleen

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