Variant report

Variant	nsv972981
Chromosome Location	chr12:41314221-41315054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41015832..41017042-chr12:41315031..41316480,11	MCF-7	breast:
2	chr12:41015662..41016670-chr12:41314832..41315906,5	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573340573	chr12:41314258-41314259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12815418	chr12:41314268-41314269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542514068	chr12:41314281-41314282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62731760	chr12:41314301-41314302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531481647	chr12:41314317-41314318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373865949	chr12:41314328-41314329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550389454	chr12:41314341-41314342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568673790	chr12:41314344-41314345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535753895	chr12:41314345-41314346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372644734	chr12:41314354-41314355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554472530	chr12:41314371-41314372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565904619	chr12:41314407-41314408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73275677	chr12:41314470-41314471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557780173	chr12:41314475-41314476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183724582	chr12:41314514-41314515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34407649	chr12:41314530-41314531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189315653	chr12:41314561-41314562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548092755	chr12:41314590-41314591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543548732	chr12:41314632-41314633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555921983	chr12:41314650-41314651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574601625	chr12:41314655-41314656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541729794	chr12:41314678-41314679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73111365	chr12:41314722-41314723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10879362	chr12:41314744-41314745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545812054	chr12:41314796-41314797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199588851	chr12:41314856-41314857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564111256	chr12:41314866-41314867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141396454	chr12:41314890-41314891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555167051	chr12:41314894-41314895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150265335	chr12:41314899-41314900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182566574	chr12:41314917-41314918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529508484	chr12:41314919-41314920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547735406	chr12:41314926-41314927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74574963	chr12:41314945-41314946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Glioma	20126413	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41297200-41338600	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:41297400-41328600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:41297400-41338600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:41297400-41346400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:41301200-41316000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:41305800-41315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:41305800-41317400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:41305800-41336200	Weak transcription	NHEK	skin
9	chr12:41313400-41338400	Weak transcription	A549	lung

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