Variant report

Variant	nsv1029314
Chromosome Location	chr8:78107849-78129934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 276 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141971403	chr8:78108605-78108606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534754073	chr8:78108633-78108634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372376834	chr8:78108648-78108649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147296931	chr8:78108662-78108663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528475098	chr8:78108726-78108727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113203407	chr8:78108731-78108732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560937674	chr8:78108738-78108739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74923695	chr8:78108745-78108746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547903068	chr8:78108762-78108763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369139584	chr8:78108789-78108790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184767808	chr8:78108848-78108849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533407459	chr8:78108850-78108851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552062561	chr8:78108863-78108864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570368296	chr8:78108872-78108873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114711967	chr8:78108891-78108892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547621629	chr8:78108952-78108953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555700518	chr8:78108994-78108995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567885448	chr8:78109007-78109008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138686012	chr8:78109023-78109024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375824822	chr8:78109026-78109027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140435100	chr8:78109071-78109072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80338607	chr8:78109080-78109081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144283323	chr8:78109118-78109119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538254918	chr8:78109232-78109233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187645594	chr8:78109237-78109238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575186270	chr8:78109268-78109269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536005898	chr8:78109294-78109295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532222247	chr8:78109379-78109380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28578707	chr8:78109391-78109392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560909284	chr8:78109392-78109393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575860010	chr8:78109396-78109397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573040653	chr8:78109398-78109399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536733674	chr8:78109399-78109400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541156799	chr8:78109466-78109467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559807284	chr8:78109483-78109484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76647127	chr8:78109514-78109515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192116117	chr8:78109527-78109528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576770660	chr8:78109554-78109555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369000720	chr8:78109561-78109562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185239287	chr8:78109603-78109604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531218621	chr8:78109623-78109624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147790243	chr8:78109652-78109653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567753136	chr8:78109691-78109692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540675078	chr8:78109727-78109728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189772671	chr8:78109748-78109749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139047912	chr8:78109793-78109794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531479572	chr8:78109799-78109800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556552694	chr8:78109805-78109806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1993195	chr8:78109823-78109824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12545842	chr8:78109888-78109889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:108)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	17016436	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Urothelial cell carcinoma	18451213	CNVD
Intellectual disability	21802062	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78108600-78110400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr8:78108800-78110200	Enhancers	HSMMtube	muscle
3	chr8:78108800-78111200	Enhancers	Fetal Heart	heart
4	chr8:78109000-78109400	Enhancers	HSMM	muscle
5	chr8:78109000-78109400	Enhancers	NH-A	brain
6	chr8:78125400-78126400	Enhancers	Fetal Heart	heart
7	chr8:78126400-78128800	Weak transcription	Fetal Heart	heart
8	chr8:78128800-78129200	Enhancers	Fetal Heart	heart
9	chr8:78129200-78130200	Weak transcription	Fetal Heart	heart

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