Variant report

Variant	nsv1003335
Chromosome Location	chr2:40216620-40245464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1694 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1694 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs759357	chr2:40216620-40216621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72789192	chr2:40216677-40216678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377312389	chr2:40216694-40216695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533509293	chr2:40216698-40216699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369489098	chr2:40216724-40216725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79588864	chr2:40216726-40216727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562215458	chr2:40216821-40216822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529753812	chr2:40216826-40216827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557540577	chr2:40216859-40216860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114828542	chr2:40216874-40216875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561175951	chr2:40216885-40216886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528779364	chr2:40216886-40216887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148806443	chr2:40216899-40216900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559613984	chr2:40216900-40216901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547018989	chr2:40216928-40216929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74781162	chr2:40216942-40216943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532358416	chr2:40216951-40216952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182530641	chr2:40216952-40216953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116420789	chr2:40216983-40216984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188046140	chr2:40216996-40216997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554798868	chr2:40217008-40217009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147091971	chr2:40217016-40217017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533998423	chr2:40217038-40217039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2373779	chr2:40217052-40217053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs148155444	chr2:40217119-40217120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191616480	chr2:40217126-40217127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78531310	chr2:40217135-40217136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569935623	chr2:40217140-40217141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184201237	chr2:40217149-40217150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34055132	chr2:40217158-40217159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79641283	chr2:40217165-40217166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561137325	chr2:40217214-40217215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187430198	chr2:40217222-40217223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs759356	chr2:40217252-40217253	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs759355	chr2:40217256-40217257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532857671	chr2:40217263-40217264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550980536	chr2:40217264-40217265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79858552	chr2:40217282-40217283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138743733	chr2:40217291-40217292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548658809	chr2:40217366-40217367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528591843	chr2:40217378-40217379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533720844	chr2:40217439-40217440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546640729	chr2:40217457-40217458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552364715	chr2:40217469-40217470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74616653	chr2:40217538-40217539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538786771	chr2:40217541-40217542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1023585	chr2:40217546-40217547	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555738100	chr2:40217557-40217558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142020882	chr2:40217608-40217609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535090680	chr2:40217637-40217638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	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
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40182000-40218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:40216800-40218200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:40217000-40219200	Enhancers	Osteobl	bone
4	chr2:40217200-40218200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:40217200-40219400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:40217400-40217600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:40217400-40219400	Enhancers	HSMM	muscle
8	chr2:40217600-40218600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:40217800-40219000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:40217800-40219200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:40217800-40219200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:40217800-40219400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:40218000-40218400	Enhancers	HSMMtube	muscle
14	chr2:40218000-40219000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:40218000-40219400	Enhancers	NHDF-Ad	bronchial
16	chr2:40218200-40221000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:40218200-40222600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:40218400-40218800	Weak transcription	HSMMtube	muscle
19	chr2:40218400-40219000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:40218400-40225200	Weak transcription	Fetal Kidney	kidney
21	chr2:40218600-40219000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:40218600-40219000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:40218600-40220000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:40218800-40219000	Enhancers	HSMMtube	muscle
25	chr2:40218800-40219000	Enhancers	NHEK	skin
26	chr2:40219000-40220800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:40219000-40223600	Weak transcription	HSMMtube	muscle
28	chr2:40219000-40223800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:40219200-40221000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:40219200-40224400	Weak transcription	Osteobl	bone
31	chr2:40219400-40221000	Weak transcription	NHDF-Ad	bronchial
32	chr2:40219400-40221400	Weak transcription	HSMM	muscle
33	chr2:40219400-40221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:40220600-40220800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:40220600-40221000	Weak transcription	NHEK	skin
36	chr2:40220800-40221400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:40220800-40225000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:40220800-40225200	Enhancers	HMEC	breast
39	chr2:40221000-40221200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:40221000-40221400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:40221000-40221800	Enhancers	NHDF-Ad	bronchial
42	chr2:40221000-40222000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:40221000-40225000	Enhancers	NHEK	skin
44	chr2:40221200-40221600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:40221400-40221800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:40221400-40222000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:40221400-40225000	Enhancers	HSMM	muscle
48	chr2:40221400-40225200	Enhancers	Dnd41	blood
49	chr2:40221600-40221800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:40221600-40221800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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