Variant report

Variant	esv3468857
Chromosome Location	chr5:15187316-15202985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:15190871..15191745-chr5:15994067..15994917,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKH-3	chr5:15192248-15192558	XLOC_004740
2	lnc-ANKH-3	chr5:15191755-15192558	NR_109944

Extended variants
information (count: 43 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142914156	chr5:15190404-15190405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76531238	chr5:15190409-15190410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560117276	chr5:15190437-15190438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527731053	chr5:15190440-15190441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145109874	chr5:15190446-15190447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138851373	chr5:15190501-15190502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142055368	chr5:15190569-15190570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144750460	chr5:15190616-15190617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78062786	chr5:15190687-15190688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75473068	chr5:15190697-15190698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192973336	chr5:15190704-15190705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565631479	chr5:15190735-15190736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59633083	chr5:15190771-15190772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375189046	chr5:15190819-15190820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377116995	chr5:15190831-15190832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557443783	chr5:15190933-15190934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576306214	chr5:15190945-15190946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185120052	chr5:15190970-15190971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190069903	chr5:15191010-15191011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10068313	chr5:15191023-15191024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529673242	chr5:15191052-15191053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142631121	chr5:15191154-15191155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536949178	chr5:15191794-15191795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs10462721	chr5:15191811-15191812	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs550116240	chr5:15191868-15191869	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs573589147	chr5:15191878-15191879	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs145188733	chr5:15192020-15192021	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs181568756	chr5:15192036-15192037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs552864236	chr5:15192111-15192112	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs572520138	chr5:15192112-15192113	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs186383236	chr5:15192168-15192169	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs564510536	chr5:15192240-15192241	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs28630944	chr5:15192305-15192306	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543831439	chr5:15192313-15192314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs562406302	chr5:15192367-15192368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs529587210	chr5:15192372-15192373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs113601889	chr5:15192399-15192400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs34735522	chr5:15192412-15192413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs10071977	chr5:15192427-15192428	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560645357	chr5:15192458-15192459	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs79612242	chr5:15192501-15192502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs569728593	chr5:15192529-15192530	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs536689764	chr5:15192546-15192547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15190400-15191200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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