Variant report

Variant	esv2322950
Chromosome Location	chr3:54240993-54241734
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	chr3:54240665..54242603-chr3:54242842..54245358,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193118725	chr3:54241005-54241006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553864580	chr3:54241008-54241009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573695684	chr3:54241010-54241011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56398728	chr3:54241023-54241024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562968590	chr3:54241062-54241063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554854305	chr3:54241093-54241094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185539469	chr3:54241102-54241103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186816117	chr3:54241103-54241104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565239756	chr3:54241112-54241113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527638942	chr3:54241173-54241174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547426313	chr3:54241275-54241276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561428531	chr3:54241299-54241300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376398833	chr3:54241383-54241384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78381466	chr3:54241399-54241400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62252190	chr3:54241400-54241401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538063392	chr3:54241419-54241420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551657143	chr3:54241445-54241446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571576996	chr3:54241447-54241448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533761966	chr3:54241450-54241451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9820483	chr3:54241476-54241477	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191612880	chr3:54241537-54241538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149348114	chr3:54241569-54241570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143772898	chr3:54241627-54241628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556245412	chr3:54241668-54241669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576513313	chr3:54241681-54241682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545205562	chr3:54241682-54241683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574745888	chr3:54241693-54241694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34223846	chr3:54241713-54241714	Enhancers Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54237800-54241000	Weak transcription	Left Ventricle	heart
2	chr3:54238000-54247400	Weak transcription	Right Atrium	heart
3	chr3:54241000-54241800	Enhancers	Left Ventricle	heart

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