Variant report

Variant	esv3331137
Chromosome Location	chr16:52342872-52343371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 68 )

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	rs35430347	chr16:52342896-52342897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs16951048	chr16:52342916-52342917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs8046731	chr16:52342919-52342920	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs543891466	chr16:52342932-52342933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149477067	chr16:52342953-52342954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73595608	chr16:52343000-52343001	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542983835	chr16:52343012-52343013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560101560	chr16:52343041-52343042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144044631	chr16:52343119-52343120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528765395	chr16:52343121-52343122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552005108	chr16:52343122-52343123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371321612	chr16:52343123-52343124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114073991	chr16:52343157-52343158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530559537	chr16:52343161-52343162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186916363	chr16:52343162-52343163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191701454	chr16:52343181-52343182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1345312	chr16:52343248-52343249	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562105067	chr16:52343266-52343267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372568276	chr16:52343280-52343281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148654416	chr16:52343293-52343294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566433325	chr16:52343365-52343366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Retinoblastoma	19183342	CNVD
Myelofibrosis	22110671	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:52341200-52344200	Enhancers	Fetal Brain Male	brain
2	chr16:52341600-52344400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr16:52341600-52345000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:52341600-52348000	Weak transcription	Fetal Lung	lung
5	chr16:52342000-52344600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr16:52342000-52344800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:52342400-52344400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:52342400-52344600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr16:52342400-52349800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr16:52342600-52343000	Weak transcription	Brain Germinal Matrix	brain
11	chr16:52342600-52344600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:52342800-52344400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr16:52343000-52344600	Enhancers	Brain Germinal Matrix	brain
14	chr16:52343000-52345000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr16:52343200-52344600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr16:52343200-52344600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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