Variant report

Variant	esv3444283
Chromosome Location	chr12:60815435-60817483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:60809569..60811831-chr12:60814159..60815747,2	MCF-7	breast:
2	chr12:60816031..60818279-chr12:60819257..60821950,2	K562	blood:
3	chr12:60816866..60819028-chr12:60821142..60823191,2	MCF-7	breast:
4	chr12:60815890..60818055-chr12:60827289..60829095,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 80 )

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	rs116384120	chr12:60815486-60815487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560342215	chr12:60815537-60815538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61923305	chr12:60815562-60815563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529504461	chr12:60815581-60815582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145169817	chr12:60815635-60815636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182535736	chr12:60815670-60815671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551588658	chr12:60815671-60815672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576728135	chr12:60815691-60815692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550644186	chr12:60815693-60815694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570466973	chr12:60815694-60815695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148911111	chr12:60815697-60815698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113594904	chr12:60815702-60815703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546735630	chr12:60815712-60815713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186898543	chr12:60815721-60815722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552838422	chr12:60815741-60815742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192153372	chr12:60815875-60815876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563841625	chr12:60815886-60815887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572748431	chr12:60815907-60815908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541636991	chr12:60815911-60815912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142677072	chr12:60815915-60815916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200950158	chr12:60815919-60815920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146499166	chr12:60815923-60815924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544598993	chr12:60815927-60815928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183796635	chr12:60815931-60815932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141011042	chr12:60815935-60815936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555253849	chr12:60815938-60815939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569170244	chr12:60815966-60815967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537743182	chr12:60815968-60815969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71080447	chr12:60815971-60815972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557581875	chr12:60815990-60815991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547366278	chr12:60816042-60816043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369505929	chr12:60816050-60816051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552177681	chr12:60816054-60816055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567150869	chr12:60816055-60816056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577622283	chr12:60816179-60816180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11173451	chr12:60816226-60816227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs61923306	chr12:60816232-60816233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188281824	chr12:60816271-60816272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568167478	chr12:60816293-60816294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143469387	chr12:60816386-60816387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71080448	chr12:60816397-60816398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370359502	chr12:60816403-60816404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374060444	chr12:60816405-60816406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367583350	chr12:60816406-60816407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370243317	chr12:60816407-60816408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562938056	chr12:60816426-60816427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576664034	chr12:60816437-60816438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545726164	chr12:60816446-60816447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374489642	chr12:60816452-60816453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201840093	chr12:60816453-60816454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Melanoma	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60810400-60819400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links