Variant report

Variant	nsv1043717
Chromosome Location	chr12:59213144-59227711
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	chr12:59227394..59228307-chr12:59543616..59544500,4	MCF-7	breast:
2	chr12:59227368..59228360-chr12:59480589..59481215,3	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6581219	chr12:59213144-59213145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183769562	chr12:59213191-59213192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188701946	chr12:59213228-59213229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6581220	chr12:59213256-59213257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565910436	chr12:59213311-59213312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374366093	chr12:59213312-59213313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549308407	chr12:59213357-59213358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563124680	chr12:59213377-59213378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34769332	chr12:59213380-59213381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56822583	chr12:59213381-59213382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397948845	chr12:59213382-59213383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140022030	chr12:59213391-59213392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151053322	chr12:59213393-59213394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74509453	chr12:59213397-59213398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550276257	chr12:59213412-59213413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368398884	chr12:59213416-59213417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146790312	chr12:59213431-59213432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550547608	chr12:59213432-59213433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190748703	chr12:59213458-59213459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533006688	chr12:59213463-59213464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183352084	chr12:59213464-59213465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113905157	chr12:59213466-59213467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571197623	chr12:59213473-59213474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11172742	chr12:59213486-59213487	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553315794	chr12:59213509-59213510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140462537	chr12:59213525-59213526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73118540	chr12:59213526-59213527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557074863	chr12:59213545-59213546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575229104	chr12:59213568-59213569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545819870	chr12:59213593-59213594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112267117	chr12:59213596-59213597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557612445	chr12:59213604-59213605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573067464	chr12:59213629-59213630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540393907	chr12:59213635-59213636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561736135	chr12:59213659-59213660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11381506	chr12:59213731-59213732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397964763	chr12:59213732-59213733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201304917	chr12:59213733-59213734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75617876	chr12:59213779-59213780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74463468	chr12:59213780-59213781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534833944	chr12:59213816-59213817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115681697	chr12:59213824-59213825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186475636	chr12:59213852-59213853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578196602	chr12:59213871-59213872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151230313	chr12:59213887-59213888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191324871	chr12:59213981-59213982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76312208	chr12:59214040-59214041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547133782	chr12:59214064-59214065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183963944	chr12:59214081-59214082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188462877	chr12:59214129-59214130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59208200-59213400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:59208400-59213600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:59208600-59213400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:59209200-59213200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:59209200-59215000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:59212600-59213400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:59212800-59213600	Enhancers	Liver	Liver
8	chr12:59212800-59213600	Enhancers	Left Ventricle	heart
9	chr12:59213200-59213400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:59213200-59214000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:59213200-59214000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr12:59213400-59213800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:59213400-59213800	Enhancers	Brain Anterior Caudate	brain
14	chr12:59213400-59213800	Enhancers	Fetal Intestine Small	intestine
15	chr12:59213400-59213800	Enhancers	HepG2	liver
16	chr12:59213400-59214000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:59213400-59214000	Enhancers	Brain Hippocampus Middle	brain
18	chr12:59213400-59214400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:59213600-59214000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:59213600-59214000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:59213600-59214800	Enhancers	Colon Smooth Muscle	Colon
22	chr12:59215000-59215200	Enhancers	Pancreatic Islets	Pancreatic Islet

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