Variant report

Variant	esv3369070
Chromosome Location	chr5:29247195-29250293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-9	chr5:29247176-29247267	l_2896_chr5:29228921-29247267_testes

Extended variants
information (count: 138 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556553735	chr5:29247236-29247237	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs149071954	chr5:29247240-29247241	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs545404739	chr5:29247258-29247259	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs560596739	chr5:29247261-29247262	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs527784260	chr5:29247371-29247372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4632810	chr5:29247378-29247379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561071278	chr5:29247387-29247388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557139854	chr5:29247403-29247404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200600711	chr5:29247421-29247422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112411035	chr5:29247426-29247427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72353166	chr5:29247427-29247428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs5866920	chr5:29247428-29247429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201870835	chr5:29247429-29247430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545890173	chr5:29247445-29247446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531357413	chr5:29247458-29247459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562479379	chr5:29247486-29247487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75296331	chr5:29247579-29247580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571417427	chr5:29247595-29247596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143069049	chr5:29247599-29247600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546964279	chr5:29247600-29247601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553966139	chr5:29247611-29247612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183183209	chr5:29247612-29247613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187470160	chr5:29247626-29247627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547836428	chr5:29247641-29247642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77209814	chr5:29247659-29247660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192973190	chr5:29247661-29247662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556852666	chr5:29247665-29247666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578171261	chr5:29247669-29247670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572919925	chr5:29247673-29247674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4346778	chr5:29247701-29247702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs184643324	chr5:29247718-29247719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138546435	chr5:29247731-29247732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140243773	chr5:29247776-29247777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561636389	chr5:29247779-29247780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561196115	chr5:29247820-29247821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11959636	chr5:29247844-29247845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs543237277	chr5:29247869-29247870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11950848	chr5:29247921-29247922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116480351	chr5:29247934-29247935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532267962	chr5:29247935-29247936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10056960	chr5:29247964-29247965	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75447003	chr5:29247971-29247972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113123512	chr5:29247987-29247988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138128633	chr5:29247988-29247989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547899650	chr5:29248013-29248014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141764783	chr5:29248015-29248016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77150162	chr5:29248068-29248069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189530736	chr5:29248110-29248111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571949874	chr5:29248122-29248123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150572495	chr5:29248124-29248125	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29246000-29248600	Enhancers	Hela-S3	cervix
2	chr5:29247600-29248200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:29248600-29249400	Weak transcription	Hela-S3	cervix
4	chr5:29249400-29249600	Enhancers	Hela-S3	cervix
5	chr5:29249600-29250200	Weak transcription	Hela-S3	cervix
6	chr5:29250200-29250400	Enhancers	Hela-S3	cervix

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