Variant report

Variant	esv3408534
Chromosome Location	chr3:85457520-85457889
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	chr3:85455981..85458898-chr3:85554544..85556051,2	K562	blood:
2	chr3:85457628..85458566-chr3:130193477..130193997,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372625723	chr3:85457526-85457527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1433710	chr3:85457535-85457536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539526296	chr3:85457560-85457561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536779112	chr3:85457579-85457580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557615150	chr3:85457596-85457597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570255828	chr3:85457601-85457602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537676259	chr3:85457633-85457634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139990153	chr3:85457640-85457641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369432438	chr3:85457658-85457659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541025847	chr3:85457662-85457663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183247203	chr3:85457680-85457681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373332150	chr3:85457693-85457694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536178337	chr3:85457699-85457700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189104392	chr3:85457716-85457717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577994426	chr3:85457717-85457718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545473402	chr3:85457757-85457758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563473756	chr3:85457759-85457760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193027020	chr3:85457764-85457765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543232467	chr3:85457794-85457795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85450400-85457800	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links