Variant report

Variant	esv3403037
Chromosome Location	chr5:1812846-1813089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1808031..1814129-chr5:1814603..1817354,6	MCF-7	breast:
2	chr5:1812295..1814045-chr5:1818146..1820126,2	MCF-7	breast:
3	chr5:1811455..1813099-chr5:1828682..1831578,2	K562	blood:
4	chr5:1800636..1804649-chr5:1810665..1816134,8	MCF-7	breast:
5	chr5:1810746..1813176-chr5:1830895..1832841,2	MCF-7	breast:
6	chr5:1810738..1814235-chr5:1880431..1884330,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171421	chromatin interactions
ENSG00000145494	chromatin interactions
ENSG00000113430	chromatin interactions
ENSG00000249116	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527855200	chr5:1812876-1812877	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs574850321	chr5:1812881-1812882	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs369565850	chr5:1812904-1812905	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs6863367	chr5:1812906-1812907	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538329633	chr5:1812924-1812925	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs375781236	chr5:1812937-1812938	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs369358194	chr5:1812941-1812942	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs13170104	chr5:1812965-1812966	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs6555012	chr5:1812995-1812996	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554450225	chr5:1813013-1813014	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs573069018	chr5:1813023-1813024	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs543309632	chr5:1813024-1813025	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs555527980	chr5:1813028-1813029	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs377564471	chr5:1813040-1813041	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs188909941	chr5:1813060-1813061	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1802200-1827800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:1802600-1814400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:1802800-1816000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:1802800-1817800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:1802800-1818400	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr5:1802800-1818600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:1802800-1818800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:1802800-1821800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:1802800-1821800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:1802800-1822000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr5:1802800-1822800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:1802800-1823000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:1802800-1823600	Strong transcription	Primary B cells from cord blood	blood
14	chr5:1802800-1825000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:1802800-1825800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:1802800-1826400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:1802800-1828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:1803000-1816200	Strong transcription	Lung	lung
19	chr5:1803000-1816800	Strong transcription	Fetal Intestine Large	intestine
20	chr5:1803000-1818200	Strong transcription	Fetal Muscle Leg	muscle
21	chr5:1803000-1818400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:1803000-1818400	Strong transcription	NHLF	lung
23	chr5:1803000-1822400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:1803000-1822400	Strong transcription	A549	lung
25	chr5:1803000-1822600	Strong transcription	Placenta	Placenta
26	chr5:1803000-1822800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr5:1803000-1822800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr5:1803000-1822800	Strong transcription	Osteobl	bone
29	chr5:1803000-1823800	Strong transcription	Fetal Thymus	thymus
30	chr5:1803000-1825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:1803000-1825000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr5:1803000-1825600	Strong transcription	Liver	Liver
33	chr5:1803000-1826000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:1803000-1826200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:1803000-1826200	Strong transcription	Adipose Nuclei	Adipose
36	chr5:1803000-1826600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr5:1803000-1826800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:1803000-1827200	Strong transcription	Fetal Brain Female	brain
39	chr5:1803000-1828000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr5:1803200-1815400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:1803200-1819400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:1803200-1821800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr5:1803200-1822600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:1803200-1823000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:1803200-1825600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr5:1803200-1825800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr5:1803200-1826800	Strong transcription	Primary T cells from cord blood	blood
48	chr5:1803400-1818600	Strong transcription	Fetal Intestine Small	intestine
49	chr5:1803400-1821600	Strong transcription	Fetal Stomach	stomach
50	chr5:1803400-1822800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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