Variant report

Variant	nsv975501
Chromosome Location	chr12:59441514-59445888
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	chr12:59443922..59445981-chr12:59446568..59448120,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257288	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563127622	chr12:59441527-59441528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374101455	chr12:59441534-59441535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530584666	chr12:59441535-59441536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574333604	chr12:59441576-59441577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74094511	chr12:59441591-59441592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541938177	chr12:59441694-59441695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551976165	chr12:59441698-59441699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7305332	chr12:59441767-59441768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528229678	chr12:59441769-59441770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7135864	chr12:59441786-59441787	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143318225	chr12:59441808-59441809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549869794	chr12:59441833-59441834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528712147	chr12:59441863-59441864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551976324	chr12:59441875-59441876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548862711	chr12:59441887-59441888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372656271	chr12:59441889-59441890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185288998	chr12:59441903-59441904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377355654	chr12:59441923-59441924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11172884	chr12:59442026-59442027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577259681	chr12:59442050-59442051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114942479	chr12:59442068-59442069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553072805	chr12:59442083-59442084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138874567	chr12:59442089-59442090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564191480	chr12:59442139-59442140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375235055	chr12:59442162-59442163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113793729	chr12:59442163-59442164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201888026	chr12:59442254-59442255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138712450	chr12:59442257-59442258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76873104	chr12:59442258-59442259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34038243	chr12:59442259-59442260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563214766	chr12:59442311-59442312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79649335	chr12:59442342-59442343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545582642	chr12:59442355-59442356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564351085	chr12:59442374-59442375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114220795	chr12:59442439-59442440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116490821	chr12:59442440-59442441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577867554	chr12:59442486-59442487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561641310	chr12:59442512-59442513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528863471	chr12:59442513-59442514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142008352	chr12:59442523-59442524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377683705	chr12:59442547-59442548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55723344	chr12:59442550-59442551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145650033	chr12:59442572-59442573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138243197	chr12:59442591-59442592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553309329	chr12:59442603-59442604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77715104	chr12:59442622-59442623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142748701	chr12:59442632-59442633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200191252	chr12:59442664-59442665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35323140	chr12:59442688-59442689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60682355	chr12:59442706-59442707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
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
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59431000-59441800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:59440000-59442000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:59440000-59442000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:59440000-59442000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:59440000-59442000	Enhancers	HMEC	breast
6	chr12:59440000-59442000	Enhancers	NHEK	skin
7	chr12:59440600-59441600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:59440800-59442000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:59441000-59450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:59441800-59442000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:59442000-59443400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:59442000-59446400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:59442000-59446800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:59442000-59446800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:59442000-59446800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:59442000-59446800	Weak transcription	HMEC	breast
17	chr12:59442000-59446800	Weak transcription	NHEK	skin

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