Variant report

Variant	esv3449902
Chromosome Location	chr4:47925821-47926297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369671484	chr4:47925844-47925845	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs544362988	chr4:47925876-47925877	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11946535	chr4:47925881-47925882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs553274970	chr4:47925892-47925893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575825447	chr4:47925931-47925932	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs375061587	chr4:47925942-47925943	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs180979353	chr4:47925952-47925953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs186200518	chr4:47926086-47926087	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144503388	chr4:47926114-47926115	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546954747	chr4:47926125-47926126	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554056786	chr4:47926129-47926130	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs369357259	chr4:47926143-47926144	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545440151	chr4:47926180-47926181	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145663536	chr4:47926181-47926182	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs76424000	chr4:47926206-47926207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs74213118	chr4:47926211-47926212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs35605099	chr4:47926272-47926273	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47923800-47926400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr4:47924800-47926000	Enhancers	GM12878-XiMat	blood
3	chr4:47924800-47928600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:47924800-47928800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:47924800-47928800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:47924800-47928800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:47925000-47928600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:47925000-47928600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:47925000-47928800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:47925000-47928800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:47925000-47928800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:47925000-47928800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:47925000-47928800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:47925000-47928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:47925200-47928600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:47925200-47928800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:47925600-47926000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr4:47925600-47926000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:47925600-47926200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:47925600-47926400	Enhancers	Primary B cells from cord blood	blood
21	chr4:47925600-47927200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr4:47926000-47926400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:47926000-47928600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:47926000-47928800	Weak transcription	GM12878-XiMat	blood
25	chr4:47926200-47928800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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