Variant report

Variant	esv3435224
Chromosome Location	chr8:78775697-78779395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561003239	chr8:78775729-78775730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183202908	chr8:78775752-78775753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540205401	chr8:78775795-78775796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565464954	chr8:78775842-78775843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375601792	chr8:78775860-78775861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532822826	chr8:78775898-78775899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550934351	chr8:78775916-78775917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550551743	chr8:78775924-78775925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569430803	chr8:78775961-78775962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562481418	chr8:78776006-78776007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2129465	chr8:78776021-78776022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs77008066	chr8:78776030-78776031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566540356	chr8:78776038-78776039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143121943	chr8:78776042-78776043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151076392	chr8:78776069-78776070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570689094	chr8:78776072-78776073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538136594	chr8:78776112-78776113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141294421	chr8:78776116-78776117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187890522	chr8:78776143-78776144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552133894	chr8:78776232-78776233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58402899	chr8:78776253-78776254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554664209	chr8:78776278-78776279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371576543	chr8:78776286-78776287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575626040	chr8:78776303-78776304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544277388	chr8:78776315-78776316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572977483	chr8:78776331-78776332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540300582	chr8:78776348-78776349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192642318	chr8:78776349-78776350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567056590	chr8:78776368-78776369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544890984	chr8:78776384-78776385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563134248	chr8:78776421-78776422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530335459	chr8:78776449-78776450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548772305	chr8:78776456-78776457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184429221	chr8:78776480-78776481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527367058	chr8:78776521-78776522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570950934	chr8:78776558-78776559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551929793	chr8:78776562-78776563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145034196	chr8:78776585-78776586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537398712	chr8:78776593-78776594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534448032	chr8:78776632-78776633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561278043	chr8:78776649-78776650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373974711	chr8:78776657-78776658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556433288	chr8:78776705-78776706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55773633	chr8:78776765-78776766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535293305	chr8:78776788-78776789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373763075	chr8:78776839-78776840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116621255	chr8:78776859-78776860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140482148	chr8:78776862-78776863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534295558	chr8:78776901-78776902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558733556	chr8:78776911-78776912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78774000-78780000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:78778000-78778800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links