Variant report

Variant	esv2763280
Chromosome Location	chr3:78495720-78497532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13322524	chr3:78495720-78495721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13322529	chr3:78495795-78495796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537270860	chr3:78495823-78495824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148505846	chr3:78495847-78495848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551070949	chr3:78495874-78495875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191505403	chr3:78495894-78495895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539902119	chr3:78495928-78495929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76552043	chr3:78495935-78495936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9818134	chr3:78495979-78495980	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142807393	chr3:78495990-78495991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150629024	chr3:78496026-78496027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575917748	chr3:78496063-78496064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544780590	chr3:78496080-78496081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563418732	chr3:78496083-78496084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543279917	chr3:78496090-78496091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570529646	chr3:78496143-78496144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139798748	chr3:78496213-78496214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559125332	chr3:78496224-78496225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528032075	chr3:78496243-78496244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144791149	chr3:78496270-78496271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147926720	chr3:78496279-78496280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530642049	chr3:78496286-78496287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9856198	chr3:78496305-78496306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570612148	chr3:78496337-78496338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75625860	chr3:78496353-78496354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141782738	chr3:78496359-78496360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372957995	chr3:78496432-78496433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9822678	chr3:78496448-78496449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs376445264	chr3:78496463-78496464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55959896	chr3:78496496-78496497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7645553	chr3:78496559-78496560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78491200-78496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:78495800-78496600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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