Variant report

Variant	esv2415807
Chromosome Location	chr5:42579003-42579449
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	chr5:42518684..42521037-chr5:42577892..42580696,2	K562	blood:
2	chr5:42577335..42580605-chr5:42585374..42588343,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4489074	chr5:42579006-42579007	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547763880	chr5:42579007-42579008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374193467	chr5:42579111-42579112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532519676	chr5:42579131-42579132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376985098	chr5:42579140-42579141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544618267	chr5:42579172-42579173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562728670	chr5:42579174-42579175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573538773	chr5:42579177-42579178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371654161	chr5:42579203-42579204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376838715	chr5:42579208-42579209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369845199	chr5:42579211-42579212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60993313	chr5:42579223-42579224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56699114	chr5:42579236-42579237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57384061	chr5:42579239-42579240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373298354	chr5:42579242-42579243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374793755	chr5:42579243-42579244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371897525	chr5:42579249-42579250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148794209	chr5:42579250-42579251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199714232	chr5:42579251-42579252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146029856	chr5:42579253-42579254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10533483	chr5:42579254-42579255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78769370	chr5:42579255-42579256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556240767	chr5:42579256-42579257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75602761	chr5:42579257-42579258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35483445	chr5:42579260-42579261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34692040	chr5:42579261-42579262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375725987	chr5:42579264-42579265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546554239	chr5:42579272-42579273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs70991418	chr5:42579274-42579275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528718563	chr5:42579276-42579277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566577830	chr5:42579293-42579294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79828551	chr5:42579299-42579300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199533699	chr5:42579303-42579304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577327686	chr5:42579311-42579312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185797680	chr5:42579371-42579372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75102727	chr5:42579433-42579434	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	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	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42568000-42579400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:42568000-42581400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:42568000-42582200	Weak transcription	Fetal Intestine Small	intestine
4	chr5:42568400-42581800	Weak transcription	Fetal Stomach	stomach
5	chr5:42568400-42582800	Weak transcription	Ovary	ovary
6	chr5:42571800-42579400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:42571800-42581200	Weak transcription	Adipose Nuclei	Adipose
8	chr5:42571800-42583400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:42572200-42587800	Weak transcription	Left Ventricle	heart
10	chr5:42572400-42582800	Weak transcription	Right Ventricle	heart
11	chr5:42572800-42579400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:42572800-42583000	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:42573000-42579400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:42573000-42581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:42573000-42582000	Weak transcription	Fetal Lung	lung
16	chr5:42573600-42586600	Weak transcription	Psoas Muscle	Psoas
17	chr5:42574600-42579400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:42576200-42581200	Enhancers	Liver	Liver
19	chr5:42578600-42580000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:42579000-42580000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:42579400-42579600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:42579400-42579800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:42579400-42579800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:42579400-42579800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:42579400-42580000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:42579400-42580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:42579400-42580000	Enhancers	Skeletal Muscle Female	skeletal muscle

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