Variant report

Variant	nsv965169
Chromosome Location	chr3:54338938-54339534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112754601	chr3:54338940-54338941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144451506	chr3:54338947-54338948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567345371	chr3:54338951-54338952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76115721	chr3:54338954-54338955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114782771	chr3:54338956-54338957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4078007	chr3:54338979-54338980	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575339041	chr3:54338987-54338988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376642913	chr3:54338988-54338989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576237734	chr3:54339040-54339041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544443985	chr3:54339047-54339048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7635568	chr3:54339087-54339088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7627905	chr3:54339118-54339119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540553900	chr3:54339131-54339132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560168741	chr3:54339244-54339245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151193624	chr3:54339313-54339314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542349551	chr3:54339332-54339333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7616533	chr3:54339365-54339366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181574776	chr3:54339372-54339373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6445644	chr3:54339415-54339416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565154591	chr3:54339448-54339449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527378118	chr3:54339492-54339493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376792452	chr3:54339494-54339495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186551891	chr3:54339496-54339497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547713959	chr3:54339504-54339505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559117544	chr3:54339522-54339523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190955102	chr3:54339534-54339535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54332200-54343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:54334000-54343200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:54336800-54340600	Weak transcription	Aorta	Aorta
4	chr3:54337600-54339800	Enhancers	Fetal Stomach	stomach
5	chr3:54338000-54339800	Enhancers	Liver	Liver
6	chr3:54338000-54339800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr3:54338200-54339000	Enhancers	Brain Germinal Matrix	brain
8	chr3:54338200-54339000	Enhancers	Brain Hippocampus Middle	brain
9	chr3:54338400-54343200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:54338400-54345400	Weak transcription	Fetal Lung	lung
11	chr3:54338600-54339600	Enhancers	Rectal Smooth Muscle	rectum
12	chr3:54338800-54340600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:54338800-54341400	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:54339000-54339400	Weak transcription	Brain Germinal Matrix	brain
15	chr3:54339000-54339800	Enhancers	Colon Smooth Muscle	Colon
16	chr3:54339400-54339600	Enhancers	Brain Germinal Matrix	brain

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