Variant report

Variant	nsv520316
Chromosome Location	chr12:75740883-75753243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566575492	chr12:75743662-75743663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182157077	chr12:75743669-75743670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141047627	chr12:75743703-75743704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551213062	chr12:75743737-75743738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567665657	chr12:75743741-75743742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77455156	chr12:75743759-75743760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372685196	chr12:75743774-75743775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530161635	chr12:75743775-75743776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547002195	chr12:75743794-75743795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535900238	chr12:75743808-75743809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567001458	chr12:75743811-75743812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539097698	chr12:75743816-75743817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35086570	chr12:75743835-75743836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150242237	chr12:75743858-75743859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544385803	chr12:75743884-75743885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186807984	chr12:75743892-75743893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113234759	chr12:75743912-75743913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116452812	chr12:75743928-75743929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143294086	chr12:75743984-75743985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542248490	chr12:75743988-75743989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147466090	chr12:75744031-75744032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375409938	chr12:75744051-75744052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545054288	chr12:75744085-75744086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368052342	chr12:75744104-75744105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565343492	chr12:75744115-75744116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575744111	chr12:75744131-75744132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371520913	chr12:75744144-75744145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561606068	chr12:75744226-75744227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371447344	chr12:75744251-75744252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530397951	chr12:75744266-75744267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547040760	chr12:75744330-75744331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138309149	chr12:75744471-75744472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192486908	chr12:75744473-75744474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143804351	chr12:75744476-75744477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552594261	chr12:75744508-75744509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569250642	chr12:75744509-75744510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537293389	chr12:75744528-75744529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147273824	chr12:75744529-75744530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567250676	chr12:75744534-75744535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536113845	chr12:75744597-75744598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542686313	chr12:75744607-75744608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552564721	chr12:75744630-75744631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117941150	chr12:75744633-75744634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183082657	chr12:75744692-75744693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10879902	chr12:75744711-75744712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs12830499	chr12:75744724-75744725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561503209	chr12:75744749-75744750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544819670	chr12:75744760-75744761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148733240	chr12:75744781-75744782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575229452	chr12:75744824-75744825	Enhancers	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
craniofacial dysmorphism	21918468	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
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75743600-75743800	Weak transcription	Psoas Muscle	Psoas
2	chr12:75743600-75744600	Enhancers	Fetal Thymus	thymus
3	chr12:75743800-75744200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:75743800-75744400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:75743800-75744400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:75743800-75744600	Enhancers	Psoas Muscle	Psoas
7	chr12:75744000-75744400	Enhancers	Thymus	Thymus
8	chr12:75744000-75744600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:75744000-75745400	Enhancers	Dnd41	blood
10	chr12:75749400-75749800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr12:75749600-75782800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:75749800-75771800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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