Variant report

Variant	esv3433663
Chromosome Location	chr3:54191275-54191840
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	chr3:54189308..54191991-chr3:54198371..54200149,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185982526	chr3:54191278-54191279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4440155	chr3:54191334-54191335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9845702	chr3:54191347-54191348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546286209	chr3:54191354-54191355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559849606	chr3:54191379-54191380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189296570	chr3:54191383-54191384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529425004	chr3:54191394-54191395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549136567	chr3:54191417-54191418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77060447	chr3:54191456-54191457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538488427	chr3:54191495-54191496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551787659	chr3:54191503-54191504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9883488	chr3:54191520-54191521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9846298	chr3:54191533-54191534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554173751	chr3:54191543-54191544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572590610	chr3:54191544-54191545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554295427	chr3:54191546-54191547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574215755	chr3:54191555-54191556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540364992	chr3:54191565-54191566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536767132	chr3:54191566-54191567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555505453	chr3:54191597-54191598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575358573	chr3:54191606-54191607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544448158	chr3:54191607-54191608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564271462	chr3:54191623-54191624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374905338	chr3:54191661-54191662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577202066	chr3:54191664-54191665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181246197	chr3:54191674-54191675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186520698	chr3:54191675-54191676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373381326	chr3:54191703-54191704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142884962	chr3:54191709-54191710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146088380	chr3:54191732-54191733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190249572	chr3:54191749-54191750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376325736	chr3:54191750-54191751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377521325	chr3:54191787-54191788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56349750	chr3:54191814-54191815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139923472	chr3:54191815-54191816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547786038	chr3:54191837-54191838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54181000-54195000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:54181600-54192000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:54188800-54192000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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