Variant report

Variant	esv1826697
Chromosome Location	chr12:72962655-72968492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 225 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:225 , 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	rs10128854	chr12:72962655-72962656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143910208	chr12:72962664-72962665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577069119	chr12:72962688-72962689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544444226	chr12:72962719-72962720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546015080	chr12:72962730-72962731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562570009	chr12:72962734-72962735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367623707	chr12:72962796-72962797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577260932	chr12:72962798-72962799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529739138	chr12:72962836-72962837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548296101	chr12:72962842-72962843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559890920	chr12:72962851-72962852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376541816	chr12:72962865-72962866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546847770	chr12:72962869-72962870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571610257	chr12:72962870-72962871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538820182	chr12:72962891-72962892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550775588	chr12:72962919-72962920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553445572	chr12:72962948-72962949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115924450	chr12:72962953-72962954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536325157	chr12:72962987-72962988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555090886	chr12:72963018-72963019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573116602	chr12:72963026-72963027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534188780	chr12:72963033-72963034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150653782	chr12:72963042-72963043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577228092	chr12:72963119-72963120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544552755	chr12:72963142-72963143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573124642	chr12:72963227-72963228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1032330	chr12:72963255-72963256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs74105909	chr12:72963318-72963319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562325521	chr12:72963323-72963324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1965318	chr12:72963343-72963344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375664241	chr12:72963348-72963349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149306188	chr12:72963379-72963380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1463756	chr12:72963403-72963404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184430803	chr12:72963417-72963418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187354079	chr12:72963428-72963429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372527758	chr12:72963429-72963430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565203320	chr12:72963434-72963435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532648138	chr12:72963487-72963488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550888272	chr12:72963491-72963492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1463755	chr12:72963493-72963494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs193140809	chr12:72963494-72963495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548348778	chr12:72963519-72963520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566980821	chr12:72963528-72963529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534152106	chr12:72963552-72963553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558976421	chr12:72963554-72963555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558858528	chr12:72963583-72963584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570887459	chr12:72963599-72963600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538135294	chr12:72963623-72963624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546344391	chr12:72963632-72963633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139378006	chr12:72963638-72963639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Cancer	20164920	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72947600-72973600	Weak transcription	Fetal Intestine Small	intestine
2	chr12:72956400-72973800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:72958200-72984400	Weak transcription	Pancreas	Pancrea
4	chr12:72964400-72986800	Weak transcription	Fetal Intestine Large	intestine
5	chr12:72964600-72965200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:72964800-72965400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:72965000-72965800	Enhancers	HUES48 Cell Line	embryonic stem cell

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