Variant report

Variant	esv32810
Chromosome Location	chr12:60873523-60878802
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	chr12:60868652..60870460-chr12:60874035..60876045,2	MCF-7	breast:

Extended variants
information (count: 203 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80192454	chr12:60873615-60873616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201632395	chr12:60873623-60873624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78259302	chr12:60873624-60873625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571664997	chr12:60873639-60873640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181502693	chr12:60873672-60873673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551070134	chr12:60873682-60873683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562843695	chr12:60873707-60873708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547913200	chr12:60873718-60873719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567539829	chr12:60873748-60873749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536277019	chr12:60873771-60873772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556412747	chr12:60873787-60873788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570030720	chr12:60873790-60873791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573065662	chr12:60873808-60873809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368752127	chr12:60873809-60873810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538808120	chr12:60873818-60873819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186034597	chr12:60873834-60873835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191149337	chr12:60873906-60873907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149057416	chr12:60873914-60873915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540204449	chr12:60873920-60873921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373768610	chr12:60873948-60873949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79126562	chr12:60873980-60873981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571098971	chr12:60874012-60874013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4421778	chr12:60874017-60874018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184041324	chr12:60874044-60874045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186121107	chr12:60874048-60874049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529161314	chr12:60874050-60874051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190842842	chr12:60874208-60874209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116124389	chr12:60874246-60874247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547554158	chr12:60874264-60874265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144710741	chr12:60874279-60874280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199741501	chr12:60874340-60874341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530004061	chr12:60874341-60874342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183089930	chr12:60874363-60874364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569968932	chr12:60874388-60874389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76512786	chr12:60874409-60874410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146719942	chr12:60874419-60874420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115417469	chr12:60874439-60874440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186880874	chr12:60874449-60874450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs118185280	chr12:60874473-60874474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573688220	chr12:60874527-60874528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573907009	chr12:60874538-60874539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532913613	chr12:60874568-60874569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536205401	chr12:60874574-60874575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556188444	chr12:60874643-60874644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4255571	chr12:60874699-60874700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74998592	chr12:60874731-60874732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78463939	chr12:60874743-60874744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11173487	chr12:60874776-60874777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs572121540	chr12:60874778-60874779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558252510	chr12:60874815-60874816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60872400-60887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60877600-60878000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:60877800-60878200	Enhancers	H1 Cell Line	embryonic stem cell

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