Variant report

Variant	nsv899023
Chromosome Location	chr12:40046408-40111761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39711735..39712649-chr12:40077357..40078312,2	K562	blood:
2	chr12:40065514..40066416-chr12:107873474..107874173,2	MCF-7	breast:
3	chr12:40041383..40044331-chr12:40082931..40085850,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	C12orf40	hsa-miR-1	chr12:40076763-40076785

Extended variants
information (count: 1543 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1543 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187973273	chr12:40054624-40054625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545384187	chr12:40054634-40054635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190887874	chr12:40054674-40054675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182416974	chr12:40054680-40054681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566815257	chr12:40054695-40054696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530568035	chr12:40054885-40054886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187526230	chr12:40054923-40054924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61328583	chr12:40054947-40054948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs118108711	chr12:40062626-40062627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571753924	chr12:40062627-40062628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531534032	chr12:40062634-40062635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200961880	chr12:40062635-40062636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545384099	chr12:40062644-40062645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571636942	chr12:40062648-40062649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557868394	chr12:40062712-40062713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576028670	chr12:40062735-40062736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543618841	chr12:40062743-40062744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7972791	chr12:40062754-40062755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71075072	chr12:40062760-40062761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573988032	chr12:40062797-40062798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554040203	chr12:40062813-40062814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192176754	chr12:40062814-40062815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559678459	chr12:40062822-40062823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182637279	chr12:40062831-40062832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7959285	chr12:40062856-40062857	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs186029403	chr12:40062895-40062896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530876573	chr12:40062896-40062897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370883085	chr12:40062906-40062907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549564851	chr12:40062927-40062928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138416229	chr12:40062928-40062929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534886309	chr12:40062963-40062964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546931252	chr12:40062976-40062977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190224928	chr12:40063008-40063009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539440740	chr12:40063077-40063078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12423981	chr12:40063114-40063115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576096547	chr12:40063115-40063116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536699267	chr12:40063117-40063118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555436359	chr12:40063193-40063194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570310226	chr12:40063216-40063217	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573920046	chr12:40063217-40063218	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs368667897	chr12:40063231-40063232	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs182524331	chr12:40063234-40063235	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7487999	chr12:40063237-40063238	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187520497	chr12:40063268-40063269	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192096609	chr12:40063271-40063272	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs139031439	chr12:40063288-40063289	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531039733	chr12:40063294-40063295	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs141389581	chr12:40063298-40063299	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150800203	chr12:40063299-40063300	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528695058	chr12:40063307-40063308	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40054600-40055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:40062600-40064000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:40062600-40064200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:40062600-40064400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:40062800-40063200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:40062800-40063800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr12:40062800-40064400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:40063000-40064200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:40063000-40064400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:40063000-40064400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:40063000-40064600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:40063200-40063600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr12:40063200-40064000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:40063200-40064000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:40063200-40064200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:40063200-40064400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:40063400-40064000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:40063400-40064000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:40063600-40064200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr12:40063600-40064200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:40063600-40064400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:40063800-40065600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr12:40064000-40064200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:40064000-40064200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr12:40064200-40064400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:40064200-40065400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:40064200-40065800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:40064400-40064600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:40064400-40064800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:40064400-40065000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:40064400-40065800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr12:40064600-40065000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:40064600-40065600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
34	chr12:40064600-40069200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:40064800-40065200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr12:40065000-40065400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
37	chr12:40065000-40065800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:40065200-40066200	ZNF genes & repeats	Gastric	stomach
39	chr12:40065200-40069200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:40065400-40066400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:40065400-40069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:40065600-40067000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr12:40065600-40067200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr12:40065800-40066000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:40065800-40066400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:40065800-40066800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:40065800-40069200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:40066400-40066600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:40066800-40067200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:40066800-40068200	Enhancers	Primary T helper cells PMA-I stimulated	--

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