Variant report

Variant	esv3324981
Chromosome Location	chr5:12022052-12025650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:11908684..11911495-chr5:12021242..12023652,2	MCF-7	breast:
2	chr5:12023498..12024457-chr5:12272301..12272950,2	MCF-7	breast:
3	chr5:11267303..11267987-chr5:12023685..12024349,2	K562	blood:
4	chr5:11904640..11905448-chr5:12023254..12024388,4	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376972240	chr5:12022069-12022070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11745664	chr5:12022092-12022093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs536891262	chr5:12022094-12022095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114011800	chr5:12022098-12022099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79475247	chr5:12022111-12022112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553138082	chr5:12022131-12022132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558419324	chr5:12022134-12022135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577075948	chr5:12022151-12022152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114729632	chr5:12022178-12022179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545322994	chr5:12022207-12022208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376065097	chr5:12022317-12022318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542631176	chr5:12022325-12022326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190108743	chr5:12022337-12022338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77502601	chr5:12022371-12022372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182075277	chr5:12022419-12022420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529029406	chr5:12022435-12022436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541113303	chr5:12022460-12022461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148214364	chr5:12022560-12022561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532933576	chr5:12022561-12022562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551720344	chr5:12022566-12022567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563538202	chr5:12022585-12022586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530732179	chr5:12022590-12022591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548857415	chr5:12022602-12022603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140243314	chr5:12022621-12022622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185965889	chr5:12022654-12022655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369369280	chr5:12022684-12022685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547054200	chr5:12022687-12022688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373097038	chr5:12022688-12022689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4616894	chr5:12022698-12022699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557240590	chr5:12022713-12022714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575486522	chr5:12022750-12022751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536547785	chr5:12022857-12022858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200704120	chr5:12022876-12022877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78731685	chr5:12022910-12022911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573371184	chr5:12022956-12022957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377420290	chr5:12022975-12022976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188723006	chr5:12023016-12023017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116698987	chr5:12023024-12023025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563422419	chr5:12023094-12023095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559929005	chr5:12023103-12023104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370302350	chr5:12023137-12023138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577726140	chr5:12023184-12023185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78482820	chr5:12023210-12023211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563577334	chr5:12023245-12023246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531935969	chr5:12023286-12023287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530873333	chr5:12023299-12023300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11384783	chr5:12023306-12023307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398108607	chr5:12023314-12023315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199869710	chr5:12023315-12023316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549249760	chr5:12023316-12023317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
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
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
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12020200-12023400	Weak transcription	Fetal Intestine Large	intestine
2	chr5:12022000-12024000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:12022200-12023800	Enhancers	Liver	Liver
4	chr5:12023400-12023800	Enhancers	Fetal Intestine Large	intestine

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