Variant report

Variant	esv2763465
Chromosome Location	chr5:79274595-79278596
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	chr5:79269309..79272565-chr5:79276555..79279232,3	MCF-7	breast:
2	chr5:79265623..79267181-chr5:79277439..79279231,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10060444	chr5:79274595-79274596	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79688439	chr5:79274640-79274641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572649233	chr5:79274671-79274672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575895676	chr5:79274697-79274698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535381799	chr5:79274715-79274716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374860368	chr5:79274805-79274806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541629384	chr5:79274843-79274844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188124942	chr5:79275005-79275006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572017732	chr5:79275051-79275052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540710128	chr5:79275126-79275127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62365789	chr5:79275136-79275137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191351532	chr5:79275138-79275139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558144709	chr5:79275140-79275141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182381956	chr5:79275188-79275189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577699669	chr5:79275227-79275228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546386694	chr5:79275346-79275347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563098784	chr5:79275354-79275355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531997885	chr5:79275407-79275408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139853938	chr5:79275432-79275433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375602306	chr5:79275493-79275494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578228726	chr5:79275513-79275514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543441570	chr5:79275584-79275585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527684281	chr5:79275593-79275594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116003593	chr5:79275604-79275605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35918447	chr5:79275614-79275615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563299320	chr5:79275733-79275734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149856472	chr5:79275806-79275807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539559674	chr5:79275842-79275843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549534514	chr5:79276058-79276059	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555725383	chr5:79276061-79276062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569516716	chr5:79276105-79276106	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6870377	chr5:79276149-79276150	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs542684286	chr5:79276202-79276203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192550428	chr5:79276261-79276262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6892826	chr5:79276281-79276282	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs376520273	chr5:79276292-79276293	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534596745	chr5:79276293-79276294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557484589	chr5:79276310-79276311	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527477701	chr5:79276317-79276318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200910099	chr5:79276388-79276389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536680820	chr5:79276401-79276402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577641255	chr5:79276410-79276411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547598806	chr5:79276413-79276414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115910384	chr5:79276484-79276485	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563033313	chr5:79276531-79276532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146889379	chr5:79276582-79276583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564221273	chr5:79276610-79276611	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs184988519	chr5:79276640-79276641	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs562381251	chr5:79276677-79276678	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528007063	chr5:79276724-79276725	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79260600-79286200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:79269000-79286400	Weak transcription	Thymus	Thymus
3	chr5:79269200-79274800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:79269400-79277800	Weak transcription	Hela-S3	cervix
5	chr5:79269400-79279200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:79269600-79276000	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:79269600-79276600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:79269600-79277800	Weak transcription	Brain Anterior Caudate	brain
9	chr5:79269800-79279200	Weak transcription	Brain Substantia Nigra	brain
10	chr5:79269800-79279400	Weak transcription	Lung	lung
11	chr5:79269800-79281400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:79269800-79286000	Weak transcription	Fetal Heart	heart
13	chr5:79270000-79276400	Strong transcription	Primary B cells from cord blood	blood
14	chr5:79270000-79276400	Weak transcription	Fetal Kidney	kidney
15	chr5:79270000-79286000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:79270200-79276000	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:79270200-79286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:79270400-79276400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:79270600-79278400	Weak transcription	HepG2	liver
20	chr5:79270800-79275400	Strong transcription	Primary T cells from cord blood	blood
21	chr5:79270800-79276200	Strong transcription	Liver	Liver
22	chr5:79270800-79284800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:79271000-79275200	Strong transcription	Primary hematopoietic stem cells	blood
24	chr5:79271000-79286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:79271200-79279400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:79271200-79280400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:79271200-79281000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:79271200-79282000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:79271200-79285200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:79271200-79285800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:79271200-79285800	Weak transcription	NHLF	lung
32	chr5:79271400-79277800	Weak transcription	NH-A	brain
33	chr5:79271400-79284000	Weak transcription	HSMMtube	muscle
34	chr5:79271400-79285400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:79271400-79286000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:79271400-79286000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:79271600-79277800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:79271600-79280800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:79271600-79286000	Weak transcription	HUVEC	blood vessel
40	chr5:79271800-79277800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:79272200-79279400	Weak transcription	Spleen	Spleen
42	chr5:79272200-79286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:79272400-79277000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:79272400-79279400	Weak transcription	Right Ventricle	heart
45	chr5:79272400-79285000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:79272400-79286400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:79272400-79286400	Weak transcription	Pancreas	Pancrea
48	chr5:79272600-79275200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:79272600-79284800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:79272600-79285000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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