Variant report

Variant	esv3508500
Chromosome Location	chr6:109937209-109938087
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	chr6:109932824..109934658-chr6:109936171..109939061,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187712595	chr6:109937211-109937212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199733849	chr6:109937293-109937294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146630641	chr6:109937367-109937368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535880018	chr6:109937373-109937374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6932774	chr6:109937401-109937402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs149299119	chr6:109937453-109937454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554245541	chr6:109937494-109937495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191342303	chr6:109937519-109937520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182667702	chr6:109937526-109937527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9487171	chr6:109937552-109937553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs563260180	chr6:109937559-109937560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573541529	chr6:109937562-109937563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542654559	chr6:109937568-109937569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187606819	chr6:109937593-109937594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575934212	chr6:109937595-109937596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377497094	chr6:109937603-109937604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371129433	chr6:109937604-109937605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553775757	chr6:109937609-109937610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528205883	chr6:109937611-109937612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547966021	chr6:109937650-109937651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs118143166	chr6:109937659-109937660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546140426	chr6:109937685-109937686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533635553	chr6:109937690-109937691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550482508	chr6:109937714-109937715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74892101	chr6:109937748-109937749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs63219960	chr6:109937759-109937760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548408522	chr6:109937771-109937772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570358640	chr6:109937778-109937779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144587698	chr6:109937788-109937789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369751587	chr6:109937795-109937796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549396776	chr6:109937816-109937817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565997532	chr6:109937818-109937819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78037741	chr6:109937822-109937823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377619916	chr6:109937825-109937826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557500469	chr6:109937840-109937841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568175202	chr6:109937849-109937850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533935531	chr6:109937881-109937882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577431438	chr6:109937897-109937898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553741013	chr6:109937912-109937913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140254888	chr6:109937928-109937929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148486366	chr6:109937932-109937933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192100543	chr6:109937997-109937998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576761723	chr6:109938010-109938011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144168687	chr6:109938060-109938061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146053106	chr6:109938065-109938066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539331987	chr6:109938068-109938069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572949812	chr6:109938069-109938070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545142782	chr6:109938074-109938075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	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
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109923600-109952600	Weak transcription	Right Ventricle	heart
2	chr6:109928000-109966400	Weak transcription	Pancreas	Pancrea
3	chr6:109933000-109939400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:109933000-109948800	Weak transcription	Thymus	Thymus
5	chr6:109933000-109962800	Weak transcription	Left Ventricle	heart
6	chr6:109933000-109966400	Weak transcription	Brain Germinal Matrix	brain
7	chr6:109933000-109985200	Weak transcription	Psoas Muscle	Psoas
8	chr6:109933800-109951400	Weak transcription	Primary B cells from cord blood	blood

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