Variant report

Variant	nsv8976
Chromosome Location	chr12:58717951-58734512
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	chr12:58706895..58709674-chr12:58716044..58718187,2	MCF-7	breast:

Extended variants
information (count: 445 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564696985	chr12:58717999-58718000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552049946	chr12:58718013-58718014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377078042	chr12:58718020-58718021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373514636	chr12:58718040-58718041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560672320	chr12:58718108-58718109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7954983	chr12:58718110-58718111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555566172	chr12:58718128-58718129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527940091	chr12:58718154-58718155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7970037	chr12:58718178-58718179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4760202	chr12:58718202-58718203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555677383	chr12:58718211-58718212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113406812	chr12:58718212-58718213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11172542	chr12:58718271-58718272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375624161	chr12:58718274-58718275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139797330	chr12:58718303-58718304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7970269	chr12:58718311-58718312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571450539	chr12:58718350-58718351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186734070	chr12:58718351-58718352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557868948	chr12:58718397-58718398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1389804	chr12:58718400-58718401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7955674	chr12:58718401-58718402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7970375	chr12:58718402-58718403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571923087	chr12:58718430-58718431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536126722	chr12:58718471-58718472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192842381	chr12:58718476-58718477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60888867	chr12:58718480-58718481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575931824	chr12:58718495-58718496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12317979	chr12:58718630-58718631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115014239	chr12:58718660-58718661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576964452	chr12:58718697-58718698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367976758	chr12:58718714-58718715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74387403	chr12:58718731-58718732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560635838	chr12:58718737-58718738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527908035	chr12:58718738-58718739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145288221	chr12:58718751-58718752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561663508	chr12:58718752-58718753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531602210	chr12:58718809-58718810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546783094	chr12:58718825-58718826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549812860	chr12:58718868-58718869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114225557	chr12:58718896-58718897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184804171	chr12:58718933-58718934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149078976	chr12:58718936-58718937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565712714	chr12:58718950-58718951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536477551	chr12:58718980-58718981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554557596	chr12:58719014-58719015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190053787	chr12:58719020-58719021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537344619	chr12:58719028-58719029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558548183	chr12:58719053-58719054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7958950	chr12:58719082-58719083	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs192995314	chr12:58719144-58719145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Thoracic aortic aneurysm	21092924	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
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
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
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58709200-58721200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:58717800-58719200	Weak transcription	NH-A	brain
3	chr12:58718800-58720200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:58718800-58720200	Enhancers	Fetal Lung	lung
5	chr12:58719200-58719400	Enhancers	NH-A	brain
6	chr12:58719200-58719600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:58719200-58720000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:58719400-58719800	Enhancers	Fetal Stomach	stomach
9	chr12:58719600-58720200	Enhancers	Adipose Nuclei	Adipose
10	chr12:58719800-58720200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:58720200-58724000	Weak transcription	Adipose Nuclei	Adipose
12	chr12:58720600-58721200	Enhancers	Fetal Intestine Large	intestine
13	chr12:58720600-58721400	Enhancers	Fetal Intestine Small	intestine
14	chr12:58724000-58724400	Active TSS	Adipose Nuclei	Adipose
15	chr12:58730400-58730600	Enhancers	A549	lung
16	chr12:58730600-58731200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:58730600-58731200	Enhancers	Fetal Kidney	kidney
18	chr12:58730600-58731200	Enhancers	NHLF	lung
19	chr12:58730600-58731400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:58730600-58731400	Flanking Active TSS	A549	lung
21	chr12:58730600-58731400	Enhancers	Hela-S3	cervix
22	chr12:58730600-58731400	Enhancers	HepG2	liver
23	chr12:58730600-58731400	Enhancers	HUVEC	blood vessel
24	chr12:58730600-58731400	Enhancers	NH-A	brain
25	chr12:58730600-58731400	Enhancers	NHDF-Ad	bronchial
26	chr12:58730600-58731600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:58730600-58731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:58730600-58731800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:58730600-58731800	Enhancers	Fetal Heart	heart
30	chr12:58730600-58732000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:58730600-58732200	Enhancers	Fetal Intestine Large	intestine
32	chr12:58730800-58731200	Enhancers	Adipose Nuclei	Adipose
33	chr12:58730800-58731200	Enhancers	NHEK	skin
34	chr12:58730800-58731400	Enhancers	HSMMtube	muscle
35	chr12:58730800-58731400	Enhancers	Osteobl	bone
36	chr12:58731000-58731400	Enhancers	Fetal Lung	lung
37	chr12:58731000-58731400	Enhancers	HSMM	muscle
38	chr12:58731000-58732600	Enhancers	Fetal Intestine Small	intestine
39	chr12:58731200-58731600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:58731200-58735600	Weak transcription	Fetal Kidney	kidney
41	chr12:58731200-58735600	Weak transcription	NHLF	lung
42	chr12:58731200-58736200	Weak transcription	Adipose Nuclei	Adipose
43	chr12:58731400-58734600	Weak transcription	HUVEC	blood vessel
44	chr12:58731400-58735200	Weak transcription	Fetal Lung	lung
45	chr12:58731400-58735600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:58731400-58735600	Weak transcription	NH-A	brain
47	chr12:58731400-58735600	Weak transcription	NHDF-Ad	bronchial
48	chr12:58731400-58736400	Weak transcription	HSMMtube	muscle
49	chr12:58731600-58735600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:58731600-58746600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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