Variant report

Variant	esv3475156
Chromosome Location	chr6:118245085-118245658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572702311	chr6:118245088-118245089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543198212	chr6:118245114-118245115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561444885	chr6:118245116-118245117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183828230	chr6:118245132-118245133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372847500	chr6:118245148-118245149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12178637	chr6:118245154-118245155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543875054	chr6:118245163-118245164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565559953	chr6:118245164-118245165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201141158	chr6:118245168-118245169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565167446	chr6:118245193-118245194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532500230	chr6:118245200-118245201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547310630	chr6:118245270-118245271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113876931	chr6:118245280-118245281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559175006	chr6:118245297-118245298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529846776	chr6:118245303-118245304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570387607	chr6:118245311-118245312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562251356	chr6:118245341-118245342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200239257	chr6:118245348-118245349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9489281	chr6:118245403-118245404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12178672	chr6:118245430-118245431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12178673	chr6:118245460-118245461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1199634	chr6:118245463-118245464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12178681	chr6:118245490-118245491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371201807	chr6:118245520-118245521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113227485	chr6:118245551-118245552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569830883	chr6:118245553-118245554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536776234	chr6:118245555-118245556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6902643	chr6:118245576-118245577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537062393	chr6:118245581-118245582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557355456	chr6:118245582-118245583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12173291	chr6:118245583-118245584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72955865	chr6:118245615-118245616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181447305	chr6:118245618-118245619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2760234	chr6:118245623-118245624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2760233	chr6:118245629-118245630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71012376	chr6:118245630-118245631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554511943	chr6:118245631-118245632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572738484	chr6:118245640-118245641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536938360	chr6:118245642-118245643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62432058	chr6:118245643-118245644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62432059	chr6:118245645-118245646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1359045	chr6:118245649-118245650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554890313	chr6:118245656-118245657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118242000-118249800	Weak transcription	Fetal Brain Male	brain
2	chr6:118242400-118247600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:118242800-118251400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:118243200-118248600	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links