Variant report

Variant	esv33728
Chromosome Location	chr2:53125665-53131680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 265 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532032399	chr2:53125666-53125667	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1145525	chr2:53125713-53125714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552178257	chr2:53125718-53125719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541310555	chr2:53125765-53125766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528425540	chr2:53125844-53125845	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561077026	chr2:53125875-53125876	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75828833	chr2:53125880-53125881	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568263465	chr2:53125947-53125948	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368041722	chr2:53125948-53125949	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371458887	chr2:53125970-53125971	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184774380	chr2:53125975-53125976	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551107469	chr2:53125997-53125998	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549963907	chr2:53126046-53126047	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570989615	chr2:53126055-53126056	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189507200	chr2:53126066-53126067	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569878916	chr2:53126078-53126079	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376666125	chr2:53126084-53126085	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573457390	chr2:53126113-53126114	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536150858	chr2:53126123-53126124	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148845438	chr2:53126124-53126125	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575449261	chr2:53126152-53126153	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543085315	chr2:53126182-53126183	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563022694	chr2:53126250-53126251	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs114376697	chr2:53126251-53126252	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs137865608	chr2:53126266-53126267	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559345667	chr2:53126273-53126274	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528326066	chr2:53126310-53126311	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369922100	chr2:53126319-53126320	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374304073	chr2:53126335-53126336	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs561829019	chr2:53126360-53126361	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs530744971	chr2:53126391-53126392	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532620556	chr2:53126406-53126407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535672470	chr2:53126414-53126415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533517672	chr2:53126421-53126422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368731045	chr2:53126425-53126426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372371405	chr2:53126523-53126524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72900382	chr2:53126525-53126526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566868299	chr2:53126528-53126529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535740191	chr2:53126556-53126557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552416504	chr2:53126563-53126564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555662024	chr2:53126576-53126577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569236773	chr2:53126609-53126610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73931703	chr2:53126615-53126616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371606929	chr2:53126632-53126633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576861079	chr2:53126634-53126635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545884132	chr2:53126670-53126671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552651599	chr2:53126695-53126696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572808685	chr2:53126868-53126869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542113857	chr2:53126891-53126892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181617571	chr2:53126900-53126901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53109400-53145600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:53122200-53126200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:53124000-53126000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr2:53124800-53126000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:53125800-53126400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:53126000-53126200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:53126000-53126400	ZNF genes & repeats	Gastric	stomach
8	chr2:53126200-53126400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:53131400-53131800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:53131400-53132000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:53131400-53132000	Enhancers	Fetal Muscle Leg	muscle
12	chr2:53131400-53132400	Enhancers	Hela-S3	cervix

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