Variant report

Variant	nsv309203
Chromosome Location	chr5:147603984-147603987
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr5:147603608-147604422	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr5:147603542-147604483	Hela-S3	cervix:	n/a	chr5:147604236-147604247
3	E2F4	chr5:147603749-147604403	MCF10A-Er-Src	breast:	n/a	n/a
4	ELK4	chr5:147603960-147604296	Hela-S3	cervix:	n/a	n/a
5	EP300	chr5:147603493-147604416	Hela-S3	cervix:	n/a	chr5:147604184-147604191 chr5:147604204-147604218 chr5:147603933-147603940
6	FOS	chr5:147603670-147604262	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:147603729-147604002	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:147603501-147604405	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr5:147603510-147604326	MCF10A-Er-Src	breast:	n/a	n/a
10	GTF2F1	chr5:147603468-147604069	Hela-S3	cervix:	n/a	n/a
11	MAFK	chr5:147603475-147604476	Hela-S3	cervix:	n/a	n/a
12	MYC	chr5:147603554-147604003	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:147603540-147604150	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:147603442-147604578	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr5:147602992-147604354	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr5:147603504-147604008	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr5:147603483-147604270	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:147603205-147604591	MCF10A-Er-Src	breast:	n/a	n/a
19	PRDM1	chr5:147603633-147604131	Hela-S3	cervix:	n/a	n/a
20	RFX5	chr5:147603490-147604444	Hela-S3	cervix:	n/a	chr5:147603641-147603655
21	STAT3	chr5:147603514-147604338	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr5:147603512-147604339	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr5:147603525-147604447	Hela-S3	cervix:	n/a	n/a
24	STAT3	chr5:147603655-147604150	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr5:147603515-147604432	MCF10A-Er-Src	breast:	n/a	n/a
26	TBP	chr5:147603052-147604411	Hela-S3	cervix:	n/a	n/a
27	TCF7L2	chr5:147603682-147604114	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147602522..147604396-chr5:147607993..147610533,2	K562	blood:
2	chr5:147569510..147572351-chr5:147602489..147604362,3	K562	blood:

Variant related genes	Relation type
HMGN1P16	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 74 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs33962776	chr5:147603984-147603985	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147594000-147604400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:147603400-147604000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:147603400-147604600	Enhancers	NHEK	skin
4	chr5:147603800-147605800	Enhancers	Hela-S3	cervix

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