Variant report

Variant	esv3330140
Chromosome Location	chr2:49018178-49018748
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	chr2:49011991..49014662-chr2:49016909..49018926,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557857580	chr2:49018226-49018227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566524969	chr2:49018260-49018261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533971511	chr2:49018263-49018264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184658974	chr2:49018283-49018284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35118488	chr2:49018296-49018297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4583516	chr2:49018304-49018305	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370341305	chr2:49018323-49018324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541974339	chr2:49018351-49018352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556863719	chr2:49018361-49018362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557663728	chr2:49018418-49018419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575540534	chr2:49018462-49018463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545913519	chr2:49018464-49018465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140897448	chr2:49018517-49018518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17820921	chr2:49018539-49018540	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540233704	chr2:49018560-49018561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144856172	chr2:49018582-49018583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11683759	chr2:49018602-49018603	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551288907	chr2:49018630-49018631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569328712	chr2:49018648-49018649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533393719	chr2:49018649-49018650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545979262	chr2:49018666-49018667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370263407	chr2:49018667-49018668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556117834	chr2:49018686-49018687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533905905	chr2:49018688-49018689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49017400-49018800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr2:49017400-49019000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:49017400-49019400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:49017400-49020000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:49017400-49020600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:49017600-49018800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:49017600-49019000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:49017600-49020400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:49017800-49018200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:49017800-49018200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:49017800-49019800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:49017800-49020800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:49017800-49020800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:49018000-49019600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:49018200-49018400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:49018200-49027000	Weak transcription	Right Atrium	heart
18	chr2:49018400-49018800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:49018400-49019800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:49018600-49019800	Enhancers	Fetal Brain Male	brain

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