Variant report

Variant	esv14613
Chromosome Location	chr3:34249637-34250826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDCD6IP-4	chr3:34250444-34250609	NONHSAT088956
2	lnc-PDCD6IP-4	chr3:34250444-34250609	NONHSAT088955

Extended variants
information (count: 124 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75833203	chr3:34249648-34249649	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566465165	chr3:34249673-34249674	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs534546122	chr3:34249677-34249678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552858334	chr3:34249682-34249683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191974668	chr3:34249688-34249689	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77845170	chr3:34249697-34249698	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs78059195	chr3:34249705-34249706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs78802424	chr3:34249739-34249740	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73827371	chr3:34249759-34249760	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538022086	chr3:34249773-34249774	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73827372	chr3:34249785-34249786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537133490	chr3:34249798-34249799	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs77441178	chr3:34249811-34249812	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs79017709	chr3:34249823-34249824	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs76786560	chr3:34249829-34249830	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75914619	chr3:34249838-34249839	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs77853434	chr3:34249849-34249850	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs75603201	chr3:34249856-34249857	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557147918	chr3:34249864-34249865	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570574919	chr3:34249878-34249879	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs79737459	chr3:34249881-34249882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs76266128	chr3:34249882-34249883	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs78546052	chr3:34249885-34249886	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76986225	chr3:34249886-34249887	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs79921993	chr3:34249889-34249890	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs9985312	chr3:34249893-34249894	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73827373	chr3:34249927-34249928	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs73827374	chr3:34249947-34249948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79829288	chr3:34249964-34249965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs9985381	chr3:34249972-34249973	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs76399272	chr3:34249981-34249982	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs74433006	chr3:34250002-34250003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76107442	chr3:34250014-34250015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372065968	chr3:34250021-34250022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80022151	chr3:34250037-34250038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115434641	chr3:34250039-34250040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572058027	chr3:34250063-34250064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73827375	chr3:34250078-34250079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185297581	chr3:34250080-34250081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564996717	chr3:34250086-34250087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189415867	chr3:34250089-34250090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576987432	chr3:34250093-34250094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544103430	chr3:34250106-34250107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11714393	chr3:34250111-34250112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs79137778	chr3:34250126-34250127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78321659	chr3:34250137-34250138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75445776	chr3:34250140-34250141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78065170	chr3:34250164-34250165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561475064	chr3:34250174-34250175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74878798	chr3:34250175-34250176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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	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
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
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34243000-34250600	Weak transcription	Thymus	Thymus
2	chr3:34244000-34255000	Weak transcription	Right Atrium	heart
3	chr3:34247400-34250200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:34247400-34250800	Enhancers	HUVEC	blood vessel
5	chr3:34248400-34249800	Weak transcription	Aorta	Aorta
6	chr3:34248600-34249800	Enhancers	NH-A	brain
7	chr3:34248600-34250000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:34248600-34250800	Enhancers	Stomach Smooth Muscle	stomach
9	chr3:34249200-34250200	Enhancers	Fetal Heart	heart
10	chr3:34249200-34253600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:34249400-34249800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr3:34249400-34249800	Enhancers	Osteobl	bone
13	chr3:34249400-34250000	Enhancers	Colon Smooth Muscle	Colon
14	chr3:34249400-34250000	Enhancers	Fetal Stomach	stomach
15	chr3:34249600-34250000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:34249600-34250200	Enhancers	Rectal Smooth Muscle	rectum
17	chr3:34249600-34250400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:34249800-34250200	Enhancers	Aorta	Aorta
19	chr3:34249800-34250600	Weak transcription	NH-A	brain
20	chr3:34249800-34253600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:34250000-34250800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:34250000-34254200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:34250200-34251000	Genic enhancers	Aorta	Aorta
24	chr3:34250200-34253600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:34250400-34253400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:34250600-34250800	Enhancers	Thymus	Thymus
27	chr3:34250800-34252000	Weak transcription	HUVEC	blood vessel
28	chr3:34250800-34253200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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