Variant report

Variant	esv3369979
Chromosome Location	chr2:36961988-36962231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36961890..36963981-chr2:36965860..36967970,2	K562	blood:
2	chr2:36961444..36963530-chr2:36969103..36971971,2	K562	blood:
3	chr2:36962011..36964791-chr2:36981285..36983964,3	MCF-7	breast:
4	chr2:36959452..36962419-chr2:36962892..36964794,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551497324	chr2:36961990-36961991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183802402	chr2:36962004-36962005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10165788	chr2:36962049-36962050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554965111	chr2:36962071-36962072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566889932	chr2:36962086-36962087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537408205	chr2:36962093-36962094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189163912	chr2:36962094-36962095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371631509	chr2:36962160-36962161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374401810	chr2:36962164-36962165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543486030	chr2:36962168-36962169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192080292	chr2:36962189-36962190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565297039	chr2:36962205-36962206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144928759	chr2:36962215-36962216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36942600-36968800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:36958000-36962000	Enhancers	Hela-S3	cervix
3	chr2:36958000-36968200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:36958000-36970800	Weak transcription	Ovary	ovary
5	chr2:36958200-36963600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:36960200-36980400	Weak transcription	NHDF-Ad	bronchial
7	chr2:36960600-36964400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:36960800-36962800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:36960800-36963400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:36961000-36962600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:36961000-36971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:36961200-36963000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:36961600-36963600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:36961600-36964000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:36961800-36962000	Enhancers	Placenta	Placenta
16	chr2:36961800-36969600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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