Variant report

Variant	esv3387103
Chromosome Location	chr2:49376724-49378344
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	chr2:49371083..49372770-chr2:49374962..49377778,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562838536	chr2:49376777-49376778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533070747	chr2:49376780-49376781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551554398	chr2:49376786-49376787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560047294	chr2:49376864-49376865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185561602	chr2:49376874-49376875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548699800	chr2:49376902-49376903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs953547	chr2:49376911-49376912	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188751699	chr2:49376940-49376941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74585829	chr2:49376958-49376959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571912987	chr2:49376975-49376976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138661880	chr2:49376984-49376985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114239064	chr2:49376989-49376990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572517802	chr2:49376991-49376992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536168636	chr2:49376992-49376993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375285755	chr2:49376994-49376995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536818750	chr2:49377027-49377028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555134513	chr2:49377074-49377075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs953546	chr2:49377141-49377142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543881722	chr2:49377150-49377151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558629778	chr2:49377155-49377156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577877367	chr2:49377175-49377176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535930987	chr2:49377211-49377212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544948357	chr2:49377264-49377265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181604409	chr2:49377279-49377280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149341898	chr2:49377368-49377369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113402121	chr2:49377378-49377379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35421994	chr2:49377384-49377385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186792030	chr2:49377428-49377429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542406268	chr2:49377470-49377471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543413572	chr2:49377479-49377480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199566615	chr2:49377480-49377481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147460222	chr2:49377487-49377488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555337821	chr2:49377489-49377490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139929238	chr2:49377497-49377498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77182257	chr2:49377499-49377500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145499539	chr2:49377533-49377534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566360621	chr2:49377543-49377544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557082933	chr2:49377544-49377545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4331540	chr2:49377607-49377608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570163976	chr2:49377628-49377629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76120380	chr2:49377682-49377683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192251099	chr2:49377700-49377701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147296734	chr2:49377703-49377704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148779737	chr2:49377788-49377789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142415641	chr2:49377794-49377795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151316996	chr2:49377800-49377801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553824361	chr2:49377817-49377818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182321627	chr2:49377849-49377850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542416474	chr2:49377877-49377878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184990408	chr2:49377886-49377887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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 ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49376400-49377200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:49376400-49377400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:49376400-49377800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:49376600-49379800	Weak transcription	HSMMtube	muscle
5	chr2:49377200-49379600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:49377400-49380400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:49377800-49379400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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