Variant report

Variant	esv3417193
Chromosome Location	chr4:171760577-171762825
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	chr4:171755644..171758176-chr4:171761937..171764529,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142300886	chr4:171760577-171760578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532790259	chr4:171760618-171760619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538802583	chr4:171760619-171760620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570257977	chr4:171760634-171760635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192780978	chr4:171760648-171760649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537643429	chr4:171760673-171760674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534925821	chr4:171760753-171760754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368773394	chr4:171760780-171760781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571829068	chr4:171760793-171760794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146203964	chr4:171760796-171760797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549322624	chr4:171760851-171760852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527805110	chr4:171760855-171760856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs182850772	chr4:171760865-171760866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs72698861	chr4:171760919-171760920	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs138891691	chr4:171760957-171760958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs535203814	chr4:171760959-171760960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs546344699	chr4:171760964-171760965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs559533286	chr4:171761027-171761028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187703071	chr4:171761075-171761076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs141263587	chr4:171761095-171761096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs57503823	chr4:171761148-171761149	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
primary effusion lymphomas	17116491	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
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171760400-171760800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:171760800-171761200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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