Variant report

Variant	esv3389169
Chromosome Location	chr5:35789843-35790614
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	chr5:35784897..35787598-chr5:35787752..35790021,2	K562	blood:
2	chr5:35787984..35790263-chr5:35793373..35795017,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187179673	chr5:35789856-35789857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576371323	chr5:35789865-35789866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370931390	chr5:35789966-35789967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34067631	chr5:35789995-35789996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538945487	chr5:35789999-35790000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77403017	chr5:35790011-35790012	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191638840	chr5:35790013-35790014	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs183814621	chr5:35790044-35790045	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190331279	chr5:35790069-35790070	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541263016	chr5:35790086-35790087	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566809742	chr5:35790105-35790106	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192835531	chr5:35790125-35790126	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs147285545	chr5:35790128-35790129	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs562958011	chr5:35790206-35790207	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs531842711	chr5:35790219-35790220	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs267600605	chr5:35790242-35790243	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs6875303	chr5:35790252-35790253	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs6860528	chr5:35790286-35790287	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185826028	chr5:35790319-35790320	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs139027371	chr5:35790323-35790324	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs567631855	chr5:35790328-35790329	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs536772810	chr5:35790345-35790346	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533954173	chr5:35790367-35790368	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550159117	chr5:35790369-35790370	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs57588520	chr5:35790373-35790374	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544658828	chr5:35790405-35790406	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs117331971	chr5:35790406-35790407	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs558881890	chr5:35790481-35790482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564557665	chr5:35790516-35790517	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566001148	chr5:35790519-35790520	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534499777	chr5:35790521-35790522	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs34141553	chr5:35790553-35790554	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554773199	chr5:35790582-35790583	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs143014521	chr5:35790590-35790591	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
prenatal diagnosis	22389664	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
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
Non-small cell lung cancer	19010865	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
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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35785000-35803200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:35786400-35790000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:35787000-35792200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr5:35787400-35793200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:35788400-35790200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:35788400-35791800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:35788400-35796800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:35788600-35791600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr5:35788800-35790200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:35788800-35791400	Enhancers	Primary T cells from cord blood	blood
11	chr5:35788800-35791400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:35788800-35791400	Enhancers	NHLF	lung
13	chr5:35788800-35796800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:35789000-35791200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:35789000-35791200	Enhancers	NHDF-Ad	bronchial
16	chr5:35789400-35793400	Weak transcription	Thymus	Thymus
17	chr5:35789400-35793600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:35789400-35794000	Weak transcription	Dnd41	blood
19	chr5:35789600-35791000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:35789600-35791000	Enhancers	Osteobl	bone
21	chr5:35789800-35790000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:35789800-35791200	Enhancers	HSMM	muscle
23	chr5:35789800-35791400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:35789800-35793200	Weak transcription	Fetal Thymus	thymus
25	chr5:35790000-35790400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:35790200-35790400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:35790200-35790600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:35790200-35790800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr5:35790200-35791200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr5:35790400-35790600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:35790400-35791200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:35790600-35790800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:35790600-35791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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