Variant report

Variant	esv3380141
Chromosome Location	chr7:152752974-152753241
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	GATA2	chr7:152752808-152753020	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000265275	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201630796	chr7:152752983-152752984	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs555256695	chr7:152752992-152752993	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201021714	chr7:152753000-152753001	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs371371131	chr7:152753001-152753002	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201846902	chr7:152753026-152753027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73168288	chr7:152753028-152753029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs760224	chr7:152753033-152753034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs111537686	chr7:152753042-152753043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537707947	chr7:152753130-152753131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533961645	chr7:152753177-152753178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7796034	chr7:152753183-152753184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188326609	chr7:152753188-152753189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573804130	chr7:152753194-152753195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369707048	chr7:152753211-152753212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191027772	chr7:152753212-152753213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554278530	chr7:152753218-152753219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572436399	chr7:152753234-152753235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7799765	chr7:152753235-152753236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561275852	chr7:152753241-152753242	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152752800-152753400	Enhancers	Brain Germinal Matrix	brain

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