Variant report

Variant	esv2761215
Chromosome Location	chr8:63212769-63229146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 331 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11986195	chr8:63212769-63212770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535562389	chr8:63212775-63212776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557130453	chr8:63212831-63212832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575391919	chr8:63212881-63212882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555840021	chr8:63212898-63212899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539489512	chr8:63212949-63212950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557727300	chr8:63213143-63213144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143348864	chr8:63213185-63213186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185665918	chr8:63213188-63213189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190697518	chr8:63213230-63213231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539354598	chr8:63213287-63213288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573861279	chr8:63213308-63213309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368056287	chr8:63213348-63213349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544385386	chr8:63213422-63213423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562670270	chr8:63213427-63213428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56064221	chr8:63213439-63213440	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370664115	chr8:63213467-63213468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193018995	chr8:63213518-63213519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112216100	chr8:63213520-63213521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58402023	chr8:63213524-63213525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528376838	chr8:63213544-63213545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546842463	chr8:63213604-63213605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568349897	chr8:63213677-63213678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575474382	chr8:63213702-63213703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184484565	chr8:63213736-63213737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72401958	chr8:63213762-63213763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59094236	chr8:63213764-63213765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61472534	chr8:63213765-63213766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56723840	chr8:63213767-63213768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539962503	chr8:63213770-63213771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550794909	chr8:63213838-63213839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114689247	chr8:63213860-63213861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77264713	chr8:63213869-63213870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188268953	chr8:63213872-63213873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143500714	chr8:63213892-63213893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7845607	chr8:63213937-63213938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs115225057	chr8:63213962-63213963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7829743	chr8:63214002-63214003	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573973330	chr8:63214019-63214020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150967757	chr8:63214064-63214065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532545927	chr8:63214068-63214069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs5014328	chr8:63214076-63214077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577723266	chr8:63214135-63214136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74511855	chr8:63214147-63214148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532241098	chr8:63214179-63214180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377447960	chr8:63214238-63214239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140688197	chr8:63214262-63214263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564892527	chr8:63214295-63214296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371344202	chr8:63214360-63214361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145794167	chr8:63214383-63214384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63209600-63214000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:63209600-63214400	Weak transcription	Fetal Brain Female	brain
3	chr8:63209600-63214600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:63212400-63216200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:63212600-63213400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:63214000-63214600	Enhancers	Fetal Brain Male	brain
7	chr8:63214000-63215000	Enhancers	Brain Germinal Matrix	brain
8	chr8:63214400-63216200	Enhancers	Fetal Brain Female	brain
9	chr8:63214600-63215800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:63215000-63216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:63215200-63215800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:63215200-63216000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:63215200-63216000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:63215400-63215800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:63215400-63216000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:63215600-63216000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr8:63216000-63217200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:63217400-63217600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:63219200-63219600	Enhancers	HSMM	muscle
20	chr8:63225200-63225600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:63225200-63227000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:63225600-63234400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:63226800-63227400	Enhancers	Adipose Nuclei	Adipose
24	chr8:63227000-63227600	Enhancers	Colon Smooth Muscle	Colon

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