Variant report

Variant	nsv975633
Chromosome Location	chr12:63482802-63486707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63327252..63328936-chr12:63486552..63489469,2	MCF-7	breast:
2	chr12:63480027..63482995-chr12:64172755..64175341,2	MCF-7	breast:
3	chr12:63479650..63481283-chr12:63482736..63485461,2	K562	blood:
4	chr12:63484569..63486639-chr12:64614558..64616326,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118600	chromatin interactions
ENSG00000111110	chromatin interactions
ENSG00000243024	chromatin interactions
ENSG00000174206	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs556395957	chr12:63482822-63482823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576378145	chr12:63482823-63482824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs386763658	chr12:63482831-63482832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs75584089	chr12:63482832-63482833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572085600	chr12:63482857-63482858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540741710	chr12:63482896-63482897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554665014	chr12:63482899-63482900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574506511	chr12:63482900-63482901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557072457	chr12:63482908-63482909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs949824	chr12:63482910-63482911	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs532488356	chr12:63482925-63482926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114467697	chr12:63482933-63482934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149576105	chr12:63482936-63482937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565280675	chr12:63482998-63482999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373025087	chr12:63483106-63483107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566982957	chr12:63483118-63483119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527704434	chr12:63483147-63483148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144284190	chr12:63483170-63483171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186769675	chr12:63483171-63483172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1532350	chr12:63483179-63483180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550794250	chr12:63483198-63483199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12099956	chr12:63483202-63483203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144804275	chr12:63483203-63483204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538976480	chr12:63483212-63483213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559225983	chr12:63483227-63483228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190854003	chr12:63483232-63483233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534620464	chr12:63483247-63483248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375764807	chr12:63483255-63483256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554829404	chr12:63483302-63483303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147963888	chr12:63483363-63483364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574520543	chr12:63483376-63483377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12822993	chr12:63483464-63483465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543631370	chr12:63483467-63483468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79973971	chr12:63483479-63483480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61920163	chr12:63483481-63483482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557224744	chr12:63483482-63483483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs877898	chr12:63483535-63483536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565761552	chr12:63483575-63483576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140159195	chr12:63483584-63483585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375878899	chr12:63483621-63483622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541464365	chr12:63483662-63483663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201859582	chr12:63483663-63483664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561218460	chr12:63483684-63483685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114597943	chr12:63483722-63483723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549941803	chr12:63483729-63483730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184234127	chr12:63483814-63483815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573776631	chr12:63483878-63483879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542873221	chr12:63483881-63483882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566365345	chr12:63483929-63483930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188177487	chr12:63483971-63483972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Lissencephaly	21572526	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
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
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
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	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
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63474200-63485800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:63475200-63487200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:63480000-63485400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:63480400-63490600	Weak transcription	Fetal Kidney	kidney
5	chr12:63480600-63485400	Weak transcription	Fetal Intestine Large	intestine
6	chr12:63484600-63484800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
7	chr12:63485200-63486600	Enhancers	Fetal Intestine Small	intestine
8	chr12:63485400-63485800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:63485400-63486200	Enhancers	Fetal Intestine Large	intestine
10	chr12:63485400-63487200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:63485800-63487000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:63486200-63487600	Weak transcription	Fetal Intestine Large	intestine
13	chr12:63486600-63487600	Weak transcription	Fetal Intestine Small	intestine

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