Variant report

Variant	esv2457570
Chromosome Location	chr3:54280108-54281437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4432683	chr3:54280137-54280138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531387712	chr3:54280140-54280141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374855799	chr3:54280145-54280146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539727289	chr3:54280151-54280152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546916922	chr3:54280189-54280190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549693932	chr3:54280220-54280221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114212592	chr3:54280252-54280253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186665783	chr3:54280308-54280309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117490587	chr3:54280318-54280319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575621217	chr3:54280320-54280321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538352443	chr3:54280392-54280393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112418719	chr3:54280404-54280405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556863655	chr3:54280433-54280434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561621770	chr3:54280441-54280442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576998001	chr3:54280442-54280443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373167525	chr3:54280447-54280448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546117609	chr3:54280448-54280449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142970961	chr3:54280486-54280487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573187425	chr3:54280502-54280503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6788741	chr3:54280516-54280517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541802911	chr3:54280555-54280556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372952905	chr3:54280556-54280557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530050590	chr3:54280573-54280574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561742788	chr3:54280586-54280587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11276118	chr3:54280587-54280588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201905662	chr3:54280589-54280590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11271512	chr3:54280620-54280621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550682340	chr3:54280642-54280643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191820824	chr3:54280682-54280683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533393457	chr3:54280683-54280684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369198505	chr3:54280752-54280753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201897328	chr3:54280759-54280760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546878473	chr3:54280771-54280772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566782642	chr3:54280775-54280776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529544910	chr3:54280786-54280787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184705937	chr3:54280802-54280803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542016286	chr3:54280808-54280809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569269788	chr3:54280816-54280817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151049709	chr3:54280869-54280870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189569326	chr3:54280878-54280879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193195511	chr3:54280900-54280901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539606146	chr3:54280908-54280909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553210152	chr3:54280919-54280920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566959125	chr3:54280924-54280925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573144533	chr3:54280941-54280942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542158682	chr3:54281011-54281012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6774004	chr3:54281046-54281047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs10154859	chr3:54281059-54281060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185108180	chr3:54281061-54281062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149801120	chr3:54281065-54281066	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54277400-54280200	Weak transcription	Spleen	Spleen
2	chr3:54277800-54290600	Weak transcription	Fetal Kidney	kidney
3	chr3:54278000-54286600	Weak transcription	Brain Anterior Caudate	brain
4	chr3:54278400-54285200	Weak transcription	Psoas Muscle	Psoas

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