Variant report

Variant	esv3471577
Chromosome Location	chr5:148182822-148183316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:148176798..148179293-chr5:148182053..148184338,2	K562	blood:
2	chr5:148172266..148175579-chr5:148179136..148183018,3	K562	blood:
3	chr5:148181967..148184743-chr5:148187173..148189095,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538604816	chr5:148182826-148182827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10037929	chr5:148182830-148182831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144453400	chr5:148182887-148182888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536195709	chr5:148182903-148182904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554449665	chr5:148182915-148182916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10037979	chr5:148183022-148183023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs533753499	chr5:148183040-148183041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113471072	chr5:148183057-148183058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369188093	chr5:148183060-148183061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55991904	chr5:148183101-148183102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75878498	chr5:148183153-148183154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59071776	chr5:148183157-148183158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs55646689	chr5:148183171-148183172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34108472	chr5:148183255-148183256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181083331	chr5:148183270-148183271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544583083	chr5:148183292-148183293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372282887	chr5:148183293-148183294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562787827	chr5:148183314-148183315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Charcot-marie-tooth disease	22275255	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:148175800-148185000	Weak transcription	Osteobl	bone
2	chr5:148178800-148188400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:148179000-148188400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:148180400-148183800	Weak transcription	Primary B cells from cord blood	blood
5	chr5:148180600-148183600	Weak transcription	Fetal Heart	heart
6	chr5:148181600-148183600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:148181800-148183600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:148182000-148183600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:148182200-148185200	Weak transcription	Liver	Liver
10	chr5:148182400-148183400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:148182400-148183400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:148182400-148183800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:148182400-148184000	Weak transcription	K562	blood
14	chr5:148182800-148183200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:148183200-148184200	Enhancers	Monocytes-CD14+_RO01746	blood

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