Variant report

Variant	esv3371649
Chromosome Location	chr12:73100885-73105583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 273 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145442838	chr12:73100895-73100896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs571372843	chr12:73100896-73100897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs546286121	chr12:73100901-73100902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs538580000	chr12:73100902-73100903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs556726878	chr12:73100907-73100908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200323743	chr12:73100916-73100917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566274266	chr12:73100978-73100979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs535187587	chr12:73100979-73100980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537380382	chr12:73100984-73100985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs555520917	chr12:73100985-73100986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138076017	chr12:73100997-73100998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575218463	chr12:73101025-73101026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs559382222	chr12:73101032-73101033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs578035828	chr12:73101066-73101067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184499144	chr12:73101087-73101088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563565978	chr12:73101092-73101093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs142641572	chr12:73101101-73101102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549270769	chr12:73101102-73101103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561181360	chr12:73101110-73101111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs537712697	chr12:73101120-73101121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546817409	chr12:73101129-73101130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs558065425	chr12:73101142-73101143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs117466425	chr12:73101166-73101167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs373282981	chr12:73101171-73101172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12099581	chr12:73101182-73101183	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12100010	chr12:73101187-73101188	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568789941	chr12:73101188-73101189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs12100015	chr12:73101229-73101230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555608726	chr12:73101234-73101235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189643229	chr12:73101256-73101257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs534842385	chr12:73101321-73101322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540476600	chr12:73101332-73101333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs578042933	chr12:73101354-73101355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs545198691	chr12:73101389-73101390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs376447428	chr12:73101399-73101400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs563825179	chr12:73101413-73101414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs182412263	chr12:73101416-73101417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs543052093	chr12:73101432-73101433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs373714333	chr12:73101444-73101445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs561117733	chr12:73101462-73101463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528439079	chr12:73101463-73101464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs187009728	chr12:73101501-73101502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs559876934	chr12:73101516-73101517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191086904	chr12:73101538-73101539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs61933821	chr12:73101541-73101542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373179248	chr12:73101569-73101570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs180761533	chr12:73101612-73101613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs150720255	chr12:73101622-73101623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs185581477	chr12:73101666-73101667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs77263962	chr12:73101672-73101673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73100800-73102000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr12:73102000-73104600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:73104600-73105800	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:73105000-73106600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links