Variant report

Variant	esv3410415
Chromosome Location	chr6:69865771-69866234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69861062..69862637-chr6:69865151..69866778,2	K562	blood:
2	chr6:69587193..69588031-chr6:69865072..69865822,2	MCF-7	breast:
3	chr6:69549740..69550662-chr6:69865141..69865963,2	MCF-7	breast:
4	chr6:69859676..69862637-chr6:69865151..69866904,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532998739	chr6:69865781-69865782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73745969	chr6:69865783-69865784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368455389	chr6:69865788-69865789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560063807	chr6:69865808-69865809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529175312	chr6:69865814-69865815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548847669	chr6:69865842-69865843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188307754	chr6:69865849-69865850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531574396	chr6:69865861-69865862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531398143	chr6:69865946-69865947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371329429	chr6:69865952-69865953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570866005	chr6:69865957-69865958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528607670	chr6:69865974-69865975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73467770	chr6:69866015-69866016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376661767	chr6:69866043-69866044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566850868	chr6:69866061-69866062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148075280	chr6:69866079-69866080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs314209	chr6:69866107-69866108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs314208	chr6:69866117-69866118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141846453	chr6:69866138-69866139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575214732	chr6:69866139-69866140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146495513	chr6:69866140-69866141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577683513	chr6:69866178-69866179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2050918	chr6:69866184-69866185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs314207	chr6:69866222-69866223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Acute lymphoblastic leukemia	21098271	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69856400-69874000	Weak transcription	Brain Angular Gyrus	brain
2	chr6:69860800-69876200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:69865000-69866000	Weak transcription	K562	blood
4	chr6:69866000-69866600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links