Variant report

Variant	esv3693331
Chromosome Location	chr2:53159702-53192269
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	chr2:53048846..53049807-chr2:53183875..53184416,2	MCF-7	breast:

Extended variants
information (count: 1090 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1090 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11125460	chr2:53159702-53159703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10631044	chr2:53159757-53159758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35421126	chr2:53159758-53159759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188755081	chr2:53159777-53159778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373818870	chr2:53159785-53159786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192457420	chr2:53159796-53159797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569025659	chr2:53159799-53159800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567792105	chr2:53159830-53159831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142636364	chr2:53159835-53159836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79702933	chr2:53159848-53159849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568512343	chr2:53159871-53159872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537454291	chr2:53159886-53159887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76510610	chr2:53159935-53159936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75942957	chr2:53159971-53159972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183353152	chr2:53159986-53159987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533869715	chr2:53159993-53159994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553914866	chr2:53160062-53160063	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs17043840	chr2:53160069-53160070	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531456228	chr2:53160087-53160088	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs1510107	chr2:53160137-53160138	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs370521862	chr2:53160143-53160144	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs75505992	chr2:53160176-53160177	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576463896	chr2:53160221-53160222	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs545433800	chr2:53160260-53160261	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs144953062	chr2:53160266-53160267	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192185722	chr2:53160272-53160273	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs527965503	chr2:53160285-53160286	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs183853404	chr2:53160294-53160295	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74738157	chr2:53160311-53160312	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558820699	chr2:53160321-53160322	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs77638087	chr2:53160342-53160343	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs373074846	chr2:53160386-53160387	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568624269	chr2:53160387-53160388	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs531177651	chr2:53160392-53160393	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs80077138	chr2:53160408-53160409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs187043953	chr2:53160461-53160462	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs1510108	chr2:53160468-53160469	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1510109	chr2:53160471-53160472	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs78410367	chr2:53160496-53160497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1510110	chr2:53160499-53160500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556660729	chr2:53160532-53160533	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs151295617	chr2:53160533-53160534	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs192306878	chr2:53160569-53160570	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs76915770	chr2:53160575-53160576	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs184645299	chr2:53160623-53160624	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77187267	chr2:53160679-53160680	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs58060525	chr2:53160693-53160694	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs398090326	chr2:53160695-53160696	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs551132210	chr2:53160711-53160712	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs190328651	chr2:53160730-53160731	Enhancers Weak transcription Flanking Active TSS	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53146400-53160000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:53159200-53160000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:53159200-53160400	Weak transcription	GM12878-XiMat	blood
4	chr2:53159200-53162200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:53160000-53160200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:53160000-53160800	Enhancers	HMEC	breast
7	chr2:53160000-53161000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:53160200-53161400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:53160200-53161800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:53160200-53163200	Enhancers	Hela-S3	cervix
11	chr2:53160400-53160600	Enhancers	GM12878-XiMat	blood
12	chr2:53160600-53160800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:53160600-53161000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:53160600-53161000	Weak transcription	GM12878-XiMat	blood
15	chr2:53160600-53162600	Enhancers	NH-A	brain
16	chr2:53160600-53162800	Enhancers	Osteobl	bone
17	chr2:53160800-53161200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:53160800-53161200	Enhancers	A549	lung
19	chr2:53160800-53161400	Enhancers	Fetal Intestine Small	intestine
20	chr2:53160800-53161600	Flanking Active TSS	HMEC	breast
21	chr2:53161000-53161200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:53161000-53161200	Enhancers	Fetal Intestine Large	intestine
23	chr2:53161000-53161400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:53161000-53161800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:53161000-53161800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:53161000-53161800	Enhancers	NHLF	lung
27	chr2:53161000-53162200	Enhancers	GM12878-XiMat	blood
28	chr2:53161000-53162400	Enhancers	NHEK	skin
29	chr2:53161200-53161600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:53161200-53161600	Flanking Active TSS	A549	lung
31	chr2:53161200-53161800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:53161200-53161800	Weak transcription	Fetal Intestine Large	intestine
33	chr2:53161200-53161800	Enhancers	Stomach Mucosa	stomach
34	chr2:53161200-53162200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:53161200-53162200	Enhancers	Liver	Liver
36	chr2:53161200-53162400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:53161200-53162400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:53161400-53161600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:53161400-53161800	Weak transcription	Fetal Intestine Small	intestine
40	chr2:53161400-53162200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:53161400-53162200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:53161600-53162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:53161600-53162600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:53161600-53163400	Enhancers	HMEC	breast
45	chr2:53161600-53163600	Enhancers	A549	lung
46	chr2:53161800-53162400	Enhancers	Fetal Intestine Large	intestine
47	chr2:53161800-53162600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:53161800-53162600	Enhancers	Fetal Intestine Small	intestine
49	chr2:53161800-53162800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:53162200-53162400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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