Variant report

Variant	nsv975607
Chromosome Location	chr12:62450308-62459569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 346 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs348636	chr12:62450436-62450437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150962434	chr12:62450461-62450462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs207473006	chr12:62450464-62450465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369864361	chr12:62450469-62450470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559244929	chr12:62450490-62450491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146207399	chr12:62450512-62450513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570186597	chr12:62450517-62450518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78315049	chr12:62450575-62450576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372152830	chr12:62450576-62450577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528239979	chr12:62450583-62450584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548375500	chr12:62450606-62450607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568018795	chr12:62450618-62450619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76658050	chr12:62450637-62450638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530628569	chr12:62450648-62450649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531500987	chr12:62450655-62450656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140813217	chr12:62450673-62450674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80225023	chr12:62450691-62450692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373654524	chr12:62450711-62450712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187457675	chr12:62450714-62450715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11836835	chr12:62450780-62450781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567177987	chr12:62450783-62450784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10877785	chr12:62450817-62450818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs555923538	chr12:62450819-62450820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189824750	chr12:62450857-62450858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150140573	chr12:62450915-62450916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557857796	chr12:62450999-62451000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577586913	chr12:62451001-62451002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540248924	chr12:62451008-62451009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559183045	chr12:62451032-62451033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201014414	chr12:62451033-62451034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528392098	chr12:62451054-62451055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569480040	chr12:62451074-62451075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554073989	chr12:62451077-62451078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561912977	chr12:62451085-62451086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79084829	chr12:62451122-62451123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181556023	chr12:62451147-62451148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375543691	chr12:62451202-62451203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369774872	chr12:62451210-62451211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371868379	chr12:62451216-62451217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570575224	chr12:62451259-62451260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532914063	chr12:62451268-62451269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186042310	chr12:62451305-62451306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76836869	chr12:62451353-62451354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79473648	chr12:62451395-62451396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190056444	chr12:62451455-62451456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78069377	chr12:62451501-62451502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191551	chr12:62451595-62451596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35054180	chr12:62451614-62451615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371597557	chr12:62451615-62451616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376245552	chr12:62451616-62451617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62448000-62458800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:62458800-62460000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:62458800-62460000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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