Variant report

Variant	esv3427609
Chromosome Location	chr5:152318409-152320907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMUR2-1	chr5:152318398-152318551	XLOC_005056
2	lnc-NMUR2-1	chr5:152318398-152318551	ENSG00000249484.4

Extended variants
information (count: 21 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535209248	chr5:152318419-152318420	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs559610802	chr5:152318423-152318424	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs191623017	chr5:152318529-152318530	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs551663099	chr5:152318668-152318669	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563661672	chr5:152318685-152318686	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs530828540	chr5:152318695-152318696	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549431876	chr5:152318704-152318705	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs374799223	chr5:152318712-152318713	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183245974	chr5:152318735-152318736	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs17113811	chr5:152318758-152318759	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76288195	chr5:152318768-152318769	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187421292	chr5:152318784-152318785	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557301989	chr5:152318787-152318788	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs372042527	chr5:152318798-152318799	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548854551	chr5:152318876-152318877	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs535891539	chr5:152318879-152318880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs11957397	chr5:152318931-152318932	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572892824	chr5:152318939-152318940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs541223651	chr5:152318946-152318947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11957343	chr5:152318956-152318957	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190757209	chr5:152318968-152318969	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152317000-152318600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:152317800-152318600	Enhancers	Liver	Liver
3	chr5:152318600-152318800	Flanking Active TSS	Liver	Liver
4	chr5:152318800-152319000	Active TSS	Liver	Liver

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