Variant report

Variant	esv1812349
Chromosome Location	chr12:60516593-60524969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 246 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:246 , 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	rs75394648	chr12:60516596-60516597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145851478	chr12:60516617-60516618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148564063	chr12:60516628-60516629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555368973	chr12:60516655-60516656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574878754	chr12:60516660-60516661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543919642	chr12:60516668-60516669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577927971	chr12:60516725-60516726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76859129	chr12:60516726-60516727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78970066	chr12:60516730-60516731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1493325	chr12:60516761-60516762	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73109750	chr12:60516797-60516798	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs202109633	chr12:60516808-60516809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142915813	chr12:60516824-60516825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190628821	chr12:60516830-60516831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569288493	chr12:60516863-60516864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146586364	chr12:60516888-60516889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370100632	chr12:60516945-60516946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75478945	chr12:60516983-60516984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571726733	chr12:60517028-60517029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181010715	chr12:60517103-60517104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12303842	chr12:60517110-60517111	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79382245	chr12:60517112-60517113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185942364	chr12:60517166-60517167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550607417	chr12:60517206-60517207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536986714	chr12:60517245-60517246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141297505	chr12:60517246-60517247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75411119	chr12:60517256-60517257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200614110	chr12:60517300-60517301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557441218	chr12:60517302-60517303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146790712	chr12:60517324-60517325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191270739	chr12:60517330-60517331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75694867	chr12:60517363-60517364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573718107	chr12:60517377-60517378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532909569	chr12:60517384-60517385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7133660	chr12:60517406-60517407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562722360	chr12:60517434-60517435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7955044	chr12:60517481-60517482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374415871	chr12:60517484-60517485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551839202	chr12:60517515-60517516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565276609	chr12:60517552-60517553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140422831	chr12:60517642-60517643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547556469	chr12:60517662-60517663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567865055	chr12:60517748-60517749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536418276	chr12:60517772-60517773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550064108	chr12:60517775-60517776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377741190	chr12:60517786-60517787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185895182	chr12:60517789-60517790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557381279	chr12:60517793-60517794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200567504	chr12:60517798-60517799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60259520	chr12:60517830-60517831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Prostate cancer	18632612	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60516200-60518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:60516400-60517800	Enhancers	NHLF	lung
3	chr12:60516400-60518200	Enhancers	Hela-S3	cervix
4	chr12:60516800-60517800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:60516800-60518200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:60516800-60518200	Enhancers	NHDF-Ad	bronchial
7	chr12:60517200-60517600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:60517200-60517800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:60517200-60517800	Enhancers	A549	lung
10	chr12:60517600-60517800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:60517800-60523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:60518800-60520200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:60519000-60519800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr12:60519000-60520600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr12:60519400-60520400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr12:60519800-60520400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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