Variant report

Variant	esv3429664
Chromosome Location	chr2:49272164-49272641
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	chr2:49271536..49272486-chr2:49717616..49718379,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147978739	chr2:49272204-49272205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185127521	chr2:49272213-49272214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200037925	chr2:49272229-49272230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141646960	chr2:49272237-49272238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150530296	chr2:49272239-49272240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541115156	chr2:49272323-49272324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559123380	chr2:49272327-49272328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17038137	chr2:49272338-49272339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530628140	chr2:49272350-49272351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3892124	chr2:49272391-49272392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs3892125	chr2:49272396-49272397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552766471	chr2:49272413-49272414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57455496	chr2:49272442-49272443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374657903	chr2:49272458-49272459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376141291	chr2:49272478-49272479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370159474	chr2:49272484-49272485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374616039	chr2:49272492-49272493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560121975	chr2:49272506-49272507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368688665	chr2:49272509-49272510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190040029	chr2:49272511-49272512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535820835	chr2:49272520-49272521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554582081	chr2:49272534-49272535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559978024	chr2:49272546-49272547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569573609	chr2:49272554-49272555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17038139	chr2:49272635-49272636	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49270800-49272800	Enhancers	Fetal Kidney	kidney
2	chr2:49271400-49272600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:49271400-49272600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:49271400-49273000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:49271600-49272400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:49271600-49272400	Enhancers	Brain Substantia Nigra	brain
7	chr2:49271600-49272400	Enhancers	Ovary	ovary
8	chr2:49271600-49272600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr2:49271600-49272800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:49271600-49273000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:49271800-49272200	Enhancers	Brain Germinal Matrix	brain
12	chr2:49271800-49272400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:49271800-49272400	Enhancers	Stomach Smooth Muscle	stomach
14	chr2:49271800-49272600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:49271800-49272800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:49272000-49272600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:49272200-49272400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:49272200-49272600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:49272400-49276400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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