Variant report

Variant	esv3379988
Chromosome Location	chr8:96459916-96467778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:96466484..96468779-chr8:96473364..96475271,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569235216	chr8:96460218-96460219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs118083762	chr8:96460244-96460245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147215601	chr8:96460298-96460299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371171651	chr8:96460303-96460304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557189708	chr8:96460331-96460332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200849601	chr8:96460367-96460368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199565276	chr8:96460381-96460382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143155114	chr8:96460382-96460383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74858600	chr8:96460384-96460385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577149481	chr8:96460420-96460421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539647668	chr8:96460465-96460466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540041538	chr8:96460468-96460469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557966360	chr8:96460589-96460590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76733156	chr8:96460625-96460626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573109761	chr8:96460627-96460628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541446455	chr8:96460634-96460635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561753161	chr8:96460663-96460664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3133780	chr8:96460689-96460690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs543946158	chr8:96460717-96460718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546677380	chr8:96466108-96466109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs530158955	chr8:96466110-96466111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs145515369	chr8:96466111-96466112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs566900916	chr8:96466210-96466211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs182410015	chr8:96466222-96466223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111320162	chr8:96466234-96466235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187013111	chr8:96466240-96466241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs3133781	chr8:96466242-96466243	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs59986460	chr8:96466259-96466260	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs367623726	chr8:96466324-96466325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs146756860	chr8:96466350-96466351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs112373610	chr8:96466352-96466353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs140372569	chr8:96466383-96466384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117849887	chr8:96466403-96466404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs552927963	chr8:96466412-96466413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs566344388	chr8:96466416-96466417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs199906785	chr8:96466417-96466418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs553001216	chr8:96466441-96466442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs145646657	chr8:96466484-96466485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs67637391	chr8:96466505-96466506	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555007530	chr8:96466527-96466528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs78415131	chr8:96466630-96466631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs544374557	chr8:96466695-96466696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs66954459	chr8:96466718-96466719	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533450735	chr8:96466719-96466720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540882365	chr8:96466738-96466739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs560627495	chr8:96466757-96466758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs183133323	chr8:96466784-96466785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs68019360	chr8:96466785-96466786	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555975218	chr8:96466821-96466822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs569358669	chr8:96466840-96466841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
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
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
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
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96460200-96460800	Enhancers	Fetal Lung	lung
2	chr8:96460400-96460800	Enhancers	Liver	Liver
3	chr8:96466000-96467400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:96467400-96467800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links