Variant report

Variant	esv3342180
Chromosome Location	chr8:63709447-63734873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 387 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:387 , 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	rs16929587	chr8:63709449-63709450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34583002	chr8:63709484-63709485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535024331	chr8:63709551-63709552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574645206	chr8:63709605-63709606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369270243	chr8:63709618-63709619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193044671	chr8:63709643-63709644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184532167	chr8:63709655-63709656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187543533	chr8:63709681-63709682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545958916	chr8:63709773-63709774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535340954	chr8:63709801-63709802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564310812	chr8:63709819-63709820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10957239	chr8:63709842-63709843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573169043	chr8:63709872-63709873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540580588	chr8:63709891-63709892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373484028	chr8:63709901-63709902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533544390	chr8:63709927-63709928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559738504	chr8:63709967-63709968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376518659	chr8:63709976-63709977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530117771	chr8:63709984-63709985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553344203	chr8:63709992-63709993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563779655	chr8:63710003-63710004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73256943	chr8:63710040-63710041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191945930	chr8:63710059-63710060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200745517	chr8:63710126-63710127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142332161	chr8:63710128-63710129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565511029	chr8:63710157-63710158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112651454	chr8:63710183-63710184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538428472	chr8:63710276-63710277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58076468	chr8:63710298-63710299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73683428	chr8:63710332-63710333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs76733432	chr8:63710351-63710352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567926950	chr8:63710356-63710357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535453271	chr8:63710358-63710359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556712503	chr8:63710361-63710362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59451312	chr8:63710394-63710395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200859211	chr8:63711095-63711096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557272659	chr8:63711103-63711104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530378372	chr8:63711115-63711116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547055319	chr8:63711125-63711126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560489591	chr8:63711126-63711127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11335144	chr8:63711128-63711129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545858649	chr8:63711131-63711132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564262268	chr8:63711133-63711134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202157950	chr8:63711134-63711135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528590585	chr8:63711135-63711136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540413108	chr8:63711144-63711145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199983586	chr8:63711164-63711165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552371678	chr8:63711195-63711196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562185880	chr8:63711196-63711197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569296619	chr8:63711259-63711260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63708800-63709800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:63709400-63710400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:63709600-63710000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:63710000-63710200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:63711000-63711400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:63712200-63712600	Active TSS	Fetal Heart	heart
7	chr8:63713000-63713600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:63726000-63726800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr8:63726800-63731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:63733200-63733600	Enhancers	Brain Germinal Matrix	brain

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