Variant report

Variant	esv3371903
Chromosome Location	chr5:43108133-43108670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43065870..43068626-chr5:43108656..43111085,2	MCF-7	breast:
2	chr5:43103618..43114075-chr5:43115760..43123048,23	MCF-7	breast:
3	chr5:43108517..43110178-chr5:43120166..43121777,2	K562	blood:
4	chr5:43105944..43108297-chr5:43109238..43111708,2	K562	blood:
5	chr5:42912603..42915308-chr5:43106066..43109137,3	K562	blood:
6	chr5:43107258..43109995-chr5:43119020..43121426,3	MCF-7	breast:
7	chr5:43065957..43068100-chr5:43108187..43111069,2	K562	blood:

Variant related genes	Relation type
ENSG00000172262	chromatin interactions
ENSG00000177738	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554628658	chr5:43108138-43108139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576746230	chr5:43108174-43108175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373144792	chr5:43108192-43108193	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs75995388	chr5:43108209-43108210	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs149343016	chr5:43108224-43108225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562299165	chr5:43108225-43108226	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs574222155	chr5:43108229-43108230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs578144940	chr5:43108249-43108250	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185583150	chr5:43108267-43108268	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs189260607	chr5:43108281-43108282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575353778	chr5:43108292-43108293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376863779	chr5:43108349-43108350	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs542688826	chr5:43108357-43108358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs180941389	chr5:43108368-43108369	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141122799	chr5:43108377-43108378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186364133	chr5:43108389-43108390	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559955827	chr5:43108446-43108447	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs190237901	chr5:43108453-43108454	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540202986	chr5:43108476-43108477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs61546868	chr5:43108477-43108478	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571918713	chr5:43108478-43108479	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs58723178	chr5:43108544-43108545	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546030584	chr5:43108573-43108574	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs181458540	chr5:43108589-43108590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369131764	chr5:43108622-43108623	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568071565	chr5:43108623-43108624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs35813102	chr5:43108642-43108643	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs202091913	chr5:43108659-43108660	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569048817	chr5:43108662-43108663	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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
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
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43106000-43110400	Weak transcription	Fetal Thymus	thymus
2	chr5:43106000-43120400	Weak transcription	Fetal Brain Female	brain
3	chr5:43106000-43120600	Weak transcription	Left Ventricle	heart
4	chr5:43106200-43108600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:43106200-43120400	Weak transcription	Fetal Stomach	stomach
6	chr5:43106400-43108800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:43106400-43109000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:43106400-43109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:43106400-43109200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:43106400-43109400	Weak transcription	Primary T cells from cord blood	blood
11	chr5:43106400-43109400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:43106400-43110200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:43106400-43110800	Weak transcription	Thymus	Thymus
14	chr5:43106400-43116200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:43106400-43120400	Weak transcription	Fetal Intestine Small	intestine
16	chr5:43106600-43108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:43106600-43108800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:43106600-43109000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:43106600-43109600	Weak transcription	Dnd41	blood
20	chr5:43106600-43109600	Weak transcription	GM12878-XiMat	blood
21	chr5:43106600-43110400	Weak transcription	Fetal Intestine Large	intestine
22	chr5:43106600-43110800	Weak transcription	HepG2	liver
23	chr5:43106600-43111200	Weak transcription	K562	blood
24	chr5:43106600-43120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:43106800-43109000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:43106800-43109200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:43108000-43108200	Enhancers	NHLF	lung
28	chr5:43108600-43111800	Enhancers	Primary T cells fromperipheralblood	blood

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