Variant report

Variant	nsv1043439
Chromosome Location	chr12:83612917-83671726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:83650313..83652424-chr12:83654399..83655919,2	K562	blood:
2	chr12:83621899..83623681-chr12:83628874..83631467,2	MCF-7	breast:
3	chr12:83621899..83623681-chr12:83628874..83631467,2	MCF-7	breast:
4	chr12:83650313..83652424-chr12:83654399..83655919,2	K562	blood:

Extended variants
information (count: 395 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142123112	chr12:83612918-83612919	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs61931880	chr12:83612921-83612922	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs74106338	chr12:83612930-83612931	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76002110	chr12:83613014-83613015	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143144329	chr12:83613033-83613034	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs576006858	chr12:83613047-83613048	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs111747859	chr12:83613051-83613052	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192648743	chr12:83613084-83613085	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs564114783	chr12:83613100-83613101	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76484177	chr12:83613118-83613119	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79885720	chr12:83613124-83613125	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559574578	chr12:83613196-83613197	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs7304285	chr12:83613219-83613220	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548393574	chr12:83613268-83613269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569776104	chr12:83613287-83613288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537095671	chr12:83613334-83613335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185442315	chr12:83613372-83613373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78027105	chr12:83613389-83613390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565902701	chr12:83617415-83617416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138135893	chr12:83617449-83617450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548895048	chr12:83617482-83617483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542591760	chr12:83617487-83617488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117397199	chr12:83617490-83617491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537658476	chr12:83617495-83617496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193000770	chr12:83617523-83617524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571340741	chr12:83617534-83617535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538319204	chr12:83617564-83617565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553813219	chr12:83617577-83617578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571972774	chr12:83617578-83617579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527488483	chr12:83617598-83617599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141167623	chr12:83617600-83617601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74756270	chr12:83617671-83617672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576772368	chr12:83617700-83617701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544036220	chr12:83617727-83617728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371567401	chr12:83617743-83617744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577285016	chr12:83617744-83617745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541202144	chr12:83617747-83617748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559777499	chr12:83617818-83617819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530083110	chr12:83617835-83617836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548168185	chr12:83617857-83617858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74106355	chr12:83617859-83617860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12367693	chr12:83617865-83617866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs549962974	chr12:83617890-83617891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571385861	chr12:83617893-83617894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538802568	chr12:83617923-83617924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77555587	chr12:83617926-83617927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536266148	chr12:83617927-83617928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554561229	chr12:83617931-83617932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138858863	chr12:83617946-83617947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184177299	chr12:83618028-83618029	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83612800-83613000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:83613000-83613200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:83613200-83613400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr12:83617400-83619200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:83617600-83618600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr12:83617800-83618200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:83622000-83622400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:83626600-83627000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:83627000-83628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:83628400-83628800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:83628400-83629000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:83628600-83628800	Enhancers	Colon Smooth Muscle	Colon
13	chr12:83630400-83631000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr12:83637000-83638200	Enhancers	Fetal Lung	lung
15	chr12:83651200-83652200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:83659200-83660400	Enhancers	Colon Smooth Muscle	Colon

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