Variant report

Variant	esv2763484
Chromosome Location	chr5:111352353-111371959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAMK4-2	chr5:111352837-111353006	ENSG00000250095.1
2	lnc-CAMK4-2	chr5:111352837-111353003	ENSG00000250095.1

Extended variants
information (count: 250 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182442460	chr5:111352837-111352838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs187938370	chr5:111352853-111352854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs374549261	chr5:111352880-111352881	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs563859504	chr5:111352960-111352961	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs530955221	chr5:111352965-111352966	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs566087760	chr5:111352989-111352990	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs546271251	chr5:111352991-111352992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs143213713	chr5:111354007-111354008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77599253	chr5:111354014-111354015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568054219	chr5:111354039-111354040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557342135	chr5:111354043-111354044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559391842	chr5:111354051-111354052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376967714	chr5:111354071-111354072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184542790	chr5:111354074-111354075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540190829	chr5:111354075-111354076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557613270	chr5:111354087-111354088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147522308	chr5:111354111-111354112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140071113	chr5:111354168-111354169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574484177	chr5:111354170-111354171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529574176	chr5:111354174-111354175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549436749	chr5:111354184-111354185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371745887	chr5:111354255-111354256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368392155	chr5:111354284-111354285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188954754	chr5:111354296-111354297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573001169	chr5:111354300-111354301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191834386	chr5:111354326-111354327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561784384	chr5:111354346-111354347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76407384	chr5:111354351-111354352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142990871	chr5:111354359-111354360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202228383	chr5:111354398-111354399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569553775	chr5:111354478-111354479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530681315	chr5:111354498-111354499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115382838	chr5:111354514-111354515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564270276	chr5:111354550-111354551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375995244	chr5:111354554-111354555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528237196	chr5:111354559-111354560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184292521	chr5:111354612-111354613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568093035	chr5:111354615-111354616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs26546	chr5:111354650-111354651	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550275769	chr5:111354667-111354668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569539849	chr5:111354773-111354774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532534063	chr5:111354798-111354799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539694764	chr5:111354812-111354813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374260111	chr5:111354823-111354824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557974613	chr5:111354824-111354825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547515268	chr5:111354837-111354838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551959407	chr5:111354891-111354892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573089262	chr5:111354910-111354911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534060390	chr5:111354922-111354923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555417729	chr5:111354934-111354935	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111354000-111355200	Enhancers	GM12878-XiMat	blood
2	chr5:111359400-111359800	Enhancers	Dnd41	blood
3	chr5:111359400-111362200	Enhancers	GM12878-XiMat	blood
4	chr5:111359600-111359800	Enhancers	Fetal Brain Male	brain
5	chr5:111359600-111360400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:111360000-111361000	Enhancers	Osteobl	bone
7	chr5:111360000-111361400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:111360400-111361000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:111360600-111361800	Enhancers	Fetal Lung	lung
10	chr5:111361000-111361200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:111361600-111362000	Enhancers	Stomach Smooth Muscle	stomach
12	chr5:111369600-111370400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:111370400-111370600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:111370600-111370800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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