Variant report

Variant	esv3350499
Chromosome Location	chr4:175628514-175629008
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	chr4:175626881..175629090-chr4:175631041..175633038,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570429315	chr4:175628541-175628542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552529569	chr4:175628542-175628543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376628183	chr4:175628547-175628548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191659471	chr4:175628550-175628551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546558989	chr4:175628560-175628561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60210770	chr4:175628573-175628574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184612512	chr4:175628576-175628577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555101798	chr4:175628599-175628600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189083795	chr4:175628609-175628610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537653903	chr4:175628645-175628646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557622058	chr4:175628654-175628655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140386241	chr4:175628656-175628657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545973007	chr4:175628713-175628714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115526416	chr4:175628721-175628722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559785398	chr4:175628730-175628731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193294340	chr4:175628739-175628740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28735029	chr4:175628816-175628817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs116333798	chr4:175628847-175628848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150201017	chr4:175628870-175628871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540098552	chr4:175628908-175628909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550248075	chr4:175628964-175628965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550436555	chr4:175628988-175628989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185591834	chr4:175628992-175628993	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175628000-175629200	Enhancers	Fetal Kidney	kidney
2	chr4:175628200-175630600	Enhancers	A549	lung
3	chr4:175628400-175631600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:175629000-175631600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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