Variant report

Variant	esv1512390
Chromosome Location	chr3:20896531-20896833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574919869	chr3:20896533-20896534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200564693	chr3:20896537-20896538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201631647	chr3:20896548-20896549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76092461	chr3:20896558-20896559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192809159	chr3:20896561-20896562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576181787	chr3:20896577-20896578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201349196	chr3:20896583-20896584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543278833	chr3:20896586-20896587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149910166	chr3:20896589-20896590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184713238	chr3:20896609-20896610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539702633	chr3:20896610-20896611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540171699	chr3:20896613-20896614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576382965	chr3:20896633-20896634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374875752	chr3:20896647-20896648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540674104	chr3:20896649-20896650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559167789	chr3:20896668-20896669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529825006	chr3:20896669-20896670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367593936	chr3:20896680-20896681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541581460	chr3:20896681-20896682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563869372	chr3:20896683-20896684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148202416	chr3:20896696-20896697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531018488	chr3:20896698-20896699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74220446	chr3:20896735-20896736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552854643	chr3:20896743-20896744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113184205	chr3:20896746-20896747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371650857	chr3:20896761-20896762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62236012	chr3:20896786-20896787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112091060	chr3:20896789-20896790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113894060	chr3:20896798-20896799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200491190	chr3:20896803-20896804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375981438	chr3:20896805-20896806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199670767	chr3:20896806-20896807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542613588	chr3:20896815-20896816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62236013	chr3:20896820-20896821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369723740	chr3:20896822-20896823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201115209	chr3:20896831-20896832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138014197	chr3:20896832-20896833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20895200-20896600	Enhancers	Ovary	ovary
2	chr3:20895600-20899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:20895800-20899200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:20895800-20899400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:20895800-20899400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:20895800-20899600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:20895800-20901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:20895800-20901800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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