Variant report

Variant	nsv53367
Chromosome Location	chr12:66998846-67003984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67001163..67003119-chr12:67003939..67006619,2	MCF-7	breast:
2	chr12:67001163..67003119-chr12:67003939..67006619,2	MCF-7	breast:
3	chr12:66997569..67000508-chr12:67003857..67006793,2	K562	blood:
4	chr12:66997569..67000508-chr12:67003857..67006793,2	K562	blood:

Extended variants
information (count: 221 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144318463	chr12:66998846-66998847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71910562	chr12:66998847-66998848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7297208	chr12:66998848-66998849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56773475	chr12:66998849-66998850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34122251	chr12:66998858-66998859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143560223	chr12:66998871-66998872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6581707	chr12:66998876-66998877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543346269	chr12:66998963-66998964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558167525	chr12:66999025-66999026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573743124	chr12:66999026-66999027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187933159	chr12:66999027-66999028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77612085	chr12:66999029-66999030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555050372	chr12:66999051-66999052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368662090	chr12:66999058-66999059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7312025	chr12:66999075-66999076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548983267	chr12:66999102-66999103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545605865	chr12:66999111-66999112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563759517	chr12:66999115-66999116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531218586	chr12:66999122-66999123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549741366	chr12:66999132-66999133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192406256	chr12:66999138-66999139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182999072	chr12:66999143-66999144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34136177	chr12:66999175-66999176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569119988	chr12:66999200-66999201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369761723	chr12:66999229-66999230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7311948	chr12:66999243-66999244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528828394	chr12:66999280-66999281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565786378	chr12:66999308-66999309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187432280	chr12:66999333-66999334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550649659	chr12:66999351-66999352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574885948	chr12:66999371-66999372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539184958	chr12:66999390-66999391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147138117	chr12:66999392-66999393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7312296	chr12:66999406-66999407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571650710	chr12:66999422-66999423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536943000	chr12:66999428-66999429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537423348	chr12:66999448-66999449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555245211	chr12:66999449-66999450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539680787	chr12:66999450-66999451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573659230	chr12:66999540-66999541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541431770	chr12:66999546-66999547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553164510	chr12:66999556-66999557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375754057	chr12:66999653-66999654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578033452	chr12:66999672-66999673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7301338	chr12:66999712-66999713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7315608	chr12:66999728-66999729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7315622	chr12:66999773-66999774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531180641	chr12:66999779-66999780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375837815	chr12:66999794-66999795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145013646	chr12:66999799-66999800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	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
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66995400-67000600	Weak transcription	Fetal Brain Male	brain
2	chr12:66996600-67000000	Weak transcription	Fetal Brain Female	brain
3	chr12:66996600-67007600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:66997400-67007600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:66997600-67005600	Weak transcription	Fetal Intestine Small	intestine
6	chr12:66998000-66999000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:66999000-66999200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:66999200-66999400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr12:67000000-67000600	Enhancers	Fetal Brain Female	brain
10	chr12:67000600-67001600	Weak transcription	Fetal Brain Female	brain
11	chr12:67000600-67002200	Enhancers	Fetal Brain Male	brain
12	chr12:67001200-67001600	Enhancers	Colon Smooth Muscle	Colon
13	chr12:67001600-67002200	Enhancers	Fetal Brain Female	brain
14	chr12:67002200-67004000	Weak transcription	Fetal Brain Male	brain
15	chr12:67002200-67007200	Weak transcription	Fetal Brain Female	brain

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