Variant report

Variant	esv3480964
Chromosome Location	chr12:60519885-60526983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7300765	chr12:60519886-60519887	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7300783	chr12:60519982-60519983	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574517151	chr12:60520029-60520030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537005493	chr12:60520030-60520031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556925356	chr12:60520141-60520142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569188712	chr12:60520148-60520149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369032070	chr12:60520196-60520197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538015596	chr12:60520200-60520201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141133041	chr12:60520201-60520202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182529082	chr12:60520212-60520213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557696810	chr12:60520250-60520251	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114371852	chr12:60520281-60520282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187127874	chr12:60520307-60520308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536157274	chr12:60520380-60520381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542180271	chr12:60520390-60520391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150914352	chr12:60520418-60520419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4093759	chr12:60520438-60520439	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549843110	chr12:60520450-60520451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112613693	chr12:60520495-60520496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192339954	chr12:60520533-60520534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139399869	chr12:60520558-60520559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150048426	chr12:60520567-60520568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10784027	chr12:60520618-60520619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140109837	chr12:60520627-60520628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143703050	chr12:60520637-60520638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs66587505	chr12:60520665-60520666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576688134	chr12:60520669-60520670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116532396	chr12:60520688-60520689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117061064	chr12:60520780-60520781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185217379	chr12:60520847-60520848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11831887	chr12:60520852-60520853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190444180	chr12:60520865-60520866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542369603	chr12:60520867-60520868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10877396	chr12:60520937-60520938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576056238	chr12:60520938-60520939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193225440	chr12:60520954-60520955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184359850	chr12:60520963-60520964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373307803	chr12:60520982-60520983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201954794	chr12:60520986-60520987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577661859	chr12:60521014-60521015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113470568	chr12:60521041-60521042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552011683	chr12:60521058-60521059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539899105	chr12:60521135-60521136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559355414	chr12:60521151-60521152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528162842	chr12:60521154-60521155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187977814	chr12:60521226-60521227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78775113	chr12:60521228-60521229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530745599	chr12:60521245-60521246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550425634	chr12:60521307-60521308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180798706	chr12:60521325-60521326	Weak transcription	n/a	n/a	Overlapped CNVs	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60517800-60523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60518800-60520200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:60519000-60520600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr12:60519400-60520400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr12:60519800-60520400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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