Variant report

Variant	esv3387374
Chromosome Location	chr5:60577245-60579868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60568345..60570305-chr5:60576207..60578303,2	MCF-7	breast:
2	chr5:60579757..60581913-chr5:60583719..60586334,3	K562	blood:
3	chr5:60576541..60577260-chr5:60600117..60600681,2	MCF-7	breast:

Extended variants
information (count: 218 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577387790	chr5:60577271-60577272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375348940	chr5:60577272-60577273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138673423	chr5:60577288-60577289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4699975	chr5:60577292-60577293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531811259	chr5:60577296-60577297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181553969	chr5:60577310-60577311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570933601	chr5:60577326-60577327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543600741	chr5:60577330-60577331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559031005	chr5:60577337-60577338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572381708	chr5:60577358-60577359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185729876	chr5:60577376-60577377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75024523	chr5:60577381-60577382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554966412	chr5:60577389-60577390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77154053	chr5:60577414-60577415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149321335	chr5:60577422-60577423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143568656	chr5:60577439-60577440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531577138	chr5:60577489-60577490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545285227	chr5:60577500-60577501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190983081	chr5:60577503-60577504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79039646	chr5:60577515-60577516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547049344	chr5:60577525-60577526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180995249	chr5:60577550-60577551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7715218	chr5:60577558-60577559	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562105314	chr5:60577581-60577582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78085157	chr5:60577597-60577598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569909990	chr5:60577600-60577601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137998392	chr5:60577601-60577602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10042872	chr5:60577603-60577604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374048310	chr5:60577611-60577612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535351753	chr5:60577636-60577637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554623125	chr5:60577639-60577640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79818014	chr5:60577643-60577644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111455956	chr5:60577668-60577669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573598455	chr5:60577683-60577684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543926055	chr5:60577691-60577692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185827687	chr5:60577707-60577708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576284149	chr5:60577726-60577727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544840854	chr5:60577735-60577736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190979760	chr5:60577743-60577744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142473763	chr5:60577746-60577747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368212256	chr5:60577757-60577758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565110138	chr5:60577771-60577772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527546430	chr5:60577781-60577782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116005607	chr5:60577784-60577785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560535181	chr5:60577789-60577790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184022640	chr5:60577791-60577792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186245033	chr5:60577812-60577813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549442296	chr5:60577862-60577863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10045815	chr5:60577869-60577870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532094615	chr5:60577872-60577873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60571800-60583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:60572000-60582400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:60573400-60586600	Weak transcription	Esophagus	oesophagus
4	chr5:60573400-60594800	Weak transcription	Right Atrium	heart
5	chr5:60574000-60585400	Weak transcription	Spleen	Spleen
6	chr5:60574600-60577600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:60575200-60577400	Enhancers	Fetal Heart	heart
8	chr5:60575400-60577400	Enhancers	Fetal Intestine Small	intestine
9	chr5:60575400-60577400	Enhancers	HMEC	breast
10	chr5:60575400-60577800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:60575400-60577800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:60575400-60577800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:60575600-60577400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:60575600-60577400	Enhancers	Brain Germinal Matrix	brain
15	chr5:60575600-60577400	Enhancers	Fetal Intestine Large	intestine
16	chr5:60575600-60577800	Enhancers	HUVEC	blood vessel
17	chr5:60575800-60577400	Enhancers	Primary B cells from cord blood	blood
18	chr5:60575800-60577400	Enhancers	A549	lung
19	chr5:60575800-60577400	Enhancers	NHDF-Ad	bronchial
20	chr5:60575800-60577600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:60575800-60577800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:60576000-60577400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:60576000-60577400	Enhancers	Fetal Kidney	kidney
24	chr5:60576000-60577600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:60576200-60577800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:60576600-60577400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:60576600-60581200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:60576600-60588800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:60577000-60578200	Weak transcription	Stomach Mucosa	stomach
30	chr5:60577000-60582400	Weak transcription	NHLF	lung
31	chr5:60577200-60577600	Enhancers	NHEK	skin
32	chr5:60577200-60579400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:60577200-60581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:60577200-60582000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:60577200-60582400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:60577200-60582400	Weak transcription	Pancreas	Pancrea
37	chr5:60577200-60582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:60577200-60582400	Weak transcription	HSMM	muscle
39	chr5:60577200-60582600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr5:60577200-60585400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:60577400-60577800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:60577400-60580600	Weak transcription	Brain Germinal Matrix	brain
43	chr5:60577400-60581200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:60577400-60582000	Weak transcription	NHDF-Ad	bronchial
45	chr5:60577400-60584800	Weak transcription	A549	lung
46	chr5:60577600-60580800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:60577800-60581800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:60577800-60585200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:60579200-60580600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr5:60579400-60579600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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