Variant report

Variant	nsv961317
Chromosome Location	chr2:54516070-54516570
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	chr2:54501772..54502741-chr2:54515554..54516142,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115122380	chr2:54516087-54516088	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374131785	chr2:54516100-54516101	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139501740	chr2:54516120-54516121	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186315848	chr2:54516124-54516125	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190313041	chr2:54516129-54516130	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548433510	chr2:54516130-54516131	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570780841	chr2:54516137-54516138	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568402160	chr2:54516172-54516173	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143275069	chr2:54516176-54516177	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs843729	chr2:54516182-54516183	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569635422	chr2:54516307-54516308	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538572110	chr2:54516400-54516401	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558312073	chr2:54516413-54516414	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571947543	chr2:54516423-54516424	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541078217	chr2:54516523-54516524	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548829043	chr2:54516540-54516541	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554379754	chr2:54516553-54516554	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181490168	chr2:54516568-54516569	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54449800-54535200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:54483400-54521200	Weak transcription	Pancreas	Pancrea
3	chr2:54500200-54517800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr2:54501600-54537600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:54513000-54516400	Weak transcription	Primary B cells from cord blood	blood
6	chr2:54514800-54516800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr2:54514800-54517200	Weak transcription	Aorta	Aorta
8	chr2:54515000-54516800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr2:54515000-54516800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr2:54515200-54516800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr2:54515200-54517000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:54515200-54517000	Weak transcription	Brain Anterior Caudate	brain
13	chr2:54515200-54517000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:54515200-54517200	Weak transcription	Left Ventricle	heart
15	chr2:54515200-54518200	Weak transcription	Right Atrium	heart
16	chr2:54515200-54522600	Weak transcription	Psoas Muscle	Psoas
17	chr2:54515200-54526200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:54515400-54517000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:54515400-54518000	Weak transcription	HSMMtube	muscle
20	chr2:54515600-54516200	Enhancers	Fetal Intestine Small	intestine
21	chr2:54515800-54516200	Enhancers	HepG2	liver
22	chr2:54515800-54516800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr2:54515800-54516800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr2:54515800-54517000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:54516000-54517200	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:54516000-54520200	Weak transcription	Fetal Kidney	kidney
27	chr2:54516400-54516800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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