Variant report

Variant	esv3329468
Chromosome Location	chr8:118222821-118224819
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	chr8:118222096..118223964-chr8:118223982..118226303,2	K562	blood:
2	chr8:118222096..118223964-chr8:118223982..118226303,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4523289	chr8:118222853-118222854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556061474	chr8:118222858-118222859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567993691	chr8:118222937-118222938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572681712	chr8:118222942-118222943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150819941	chr8:118223019-118223020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578025328	chr8:118223021-118223022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10093317	chr8:118223046-118223047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553998932	chr8:118223059-118223060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565554347	chr8:118223087-118223088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572373372	chr8:118223092-118223093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183221139	chr8:118223097-118223098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188234962	chr8:118223128-118223129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79274613	chr8:118223143-118223144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374330319	chr8:118223260-118223261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368576683	chr8:118223295-118223296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543992898	chr8:118223299-118223300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562663637	chr8:118223316-118223317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142874615	chr8:118223320-118223321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549842254	chr8:118223335-118223336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566458428	chr8:118223336-118223337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527263536	chr8:118223402-118223403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569824805	chr8:118223411-118223412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192568619	chr8:118223425-118223426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117456033	chr8:118223464-118223465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558718831	chr8:118223468-118223469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556904032	chr8:118223506-118223507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13267156	chr8:118223515-118223516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552090967	chr8:118223541-118223542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202242341	chr8:118223543-118223544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113819711	chr8:118223694-118223695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538877371	chr8:118223800-118223801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182222798	chr8:118223808-118223809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554227314	chr8:118223829-118223830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186520110	chr8:118223847-118223848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192633223	chr8:118223868-118223869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184613391	chr8:118223871-118223872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576038617	chr8:118223880-118223881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57113493	chr8:118223915-118223916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544055738	chr8:118223934-118223935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562660653	chr8:118223940-118223941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11987251	chr8:118223955-118223956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544909284	chr8:118223999-118224000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11994472	chr8:118224013-118224014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs527426305	chr8:118224018-118224019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189113478	chr8:118224032-118224033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543287723	chr8:118224036-118224037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112500538	chr8:118224063-118224064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146080909	chr8:118224128-118224129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185006529	chr8:118224139-118224140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530494582	chr8:118224162-118224163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD
T-cell lymphomas	22341440	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118217600-118225600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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