Variant report

Variant	esv3435115
Chromosome Location	chr6:69502552-69503124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368561127	chr6:69502583-69502584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535055640	chr6:69502603-69502604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113791590	chr6:69502608-69502609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1403927	chr6:69502611-69502612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535051588	chr6:69502648-69502649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139755931	chr6:69502683-69502684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149959262	chr6:69502689-69502690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571592156	chr6:69502692-69502693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529337795	chr6:69502693-69502694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370587122	chr6:69502710-69502711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538762296	chr6:69502721-69502722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76312145	chr6:69502731-69502732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144197729	chr6:69502745-69502746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531887011	chr6:69502766-69502767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551971340	chr6:69502784-69502785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571833116	chr6:69502785-69502786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113060961	chr6:69502929-69502930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527390672	chr6:69502931-69502932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547467599	chr6:69502945-69502946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12204402	chr6:69502987-69502988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567365377	chr6:69502991-69502992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536285654	chr6:69503052-69503053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549489970	chr6:69503063-69503064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556962	chr6:69503064-69503065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs148723525	chr6:69503087-69503088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6918766	chr6:69503099-69503100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112206619	chr6:69503105-69503106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69489600-69507000	Weak transcription	Fetal Lung	lung
2	chr6:69500200-69504600	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links