Variant report

Variant	nsv558352
Chromosome Location	chr12:37984531-37993590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 505 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151245997	chr12:37989604-37989605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541320701	chr12:37989611-37989612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7301679	chr12:37989629-37989630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529936753	chr12:37989634-37989635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543126812	chr12:37989654-37989655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139278780	chr12:37989663-37989664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117058915	chr12:37989679-37989680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551763209	chr12:37989680-37989681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58039291	chr12:37989690-37989691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182852892	chr12:37989717-37989718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375329741	chr12:37989789-37989790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11169555	chr12:37989806-37989807	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145274717	chr12:37989810-37989811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536477901	chr12:37989840-37989841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556360719	chr12:37989863-37989864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569376078	chr12:37989873-37989874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538355520	chr12:37989895-37989896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558083027	chr12:37989896-37989897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572052063	chr12:37989905-37989906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146498976	chr12:37989906-37989907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540956104	chr12:37989909-37989910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554881474	chr12:37989933-37989934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574522780	chr12:37989941-37989942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543609598	chr12:37989947-37989948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374940920	chr12:37989950-37989951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386762126	chr12:37989956-37989957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563483942	chr12:37989962-37989963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77461296	chr12:37989969-37989970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74893713	chr12:37989970-37989971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545568546	chr12:37989976-37989977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368206548	chr12:37989981-37989982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376650497	chr12:37989988-37989989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565126923	chr12:37989989-37989990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538260561	chr12:37990001-37990002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76497717	chr12:37990013-37990014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79488154	chr12:37990015-37990016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144486771	chr12:37990016-37990017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527719057	chr12:37990018-37990019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547753431	chr12:37990049-37990050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373532655	chr12:37990054-37990055	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142139526	chr12:37990084-37990085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75940084	chr12:37990101-37990102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530341450	chr12:37990108-37990109	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372512995	chr12:37990124-37990125	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113880908	chr12:37990128-37990129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200626263	chr12:37990134-37990135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201437782	chr12:37990135-37990136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199780554	chr12:37990136-37990137	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112415597	chr12:37990146-37990147	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200954904	chr12:37990148-37990149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20858243	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37989600-37991400	Weak transcription	HUVEC	blood vessel
2	chr12:37989800-38041200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr12:37990000-37990400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:37990000-37990400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
5	chr12:37990000-37990400	ZNF genes & repeats	Psoas Muscle	Psoas
6	chr12:37990000-37993400	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr12:37990000-38040800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr12:37990400-37993600	Weak transcription	Psoas Muscle	Psoas
9	chr12:37990400-38014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:37991400-37991600	ZNF genes & repeats	HUVEC	blood vessel
11	chr12:37991400-37992200	ZNF genes & repeats	Fetal Heart	heart
12	chr12:37991400-37993200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr12:37991600-37992200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:37991600-37994000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr12:37991600-37994400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr12:37991800-37992200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr12:37991800-37992200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
18	chr12:37991800-37998200	Weak transcription	K562	blood

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