Variant report

Variant	nsv976722
Chromosome Location	chr12:63812539-63827029
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	chr12:63813649..63814184-chr12:64195525..64196396,2	K562	blood:

Extended variants
information (count: 386 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201031358	chr12:63812569-63812570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35628112	chr12:63812609-63812610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547670959	chr12:63812655-63812656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560575254	chr12:63812679-63812680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147045806	chr12:63812691-63812692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138264134	chr12:63812732-63812733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569609455	chr12:63812745-63812746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538828977	chr12:63812765-63812766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552058676	chr12:63812768-63812769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565996117	chr12:63812790-63812791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534944629	chr12:63812805-63812806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187159952	chr12:63812811-63812812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143914904	chr12:63812813-63812814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371979044	chr12:63812920-63812921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1144205	chr12:63813001-63813002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147260410	chr12:63813032-63813033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576433351	chr12:63813070-63813071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545601896	chr12:63813074-63813075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565174782	chr12:63813145-63813146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138792586	chr12:63813168-63813169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149416430	chr12:63813173-63813174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372438524	chr12:63813191-63813192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529700452	chr12:63813266-63813267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549463576	chr12:63813291-63813292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563418641	chr12:63813295-63813296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192455845	chr12:63813306-63813307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565667090	chr12:63813310-63813311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148594330	chr12:63813339-63813340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183338127	chr12:63813383-63813384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186857684	chr12:63813394-63813395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532976804	chr12:63813457-63813458	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73322002	chr12:63813496-63813497	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536673759	chr12:63813501-63813502	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546922334	chr12:63813503-63813504	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566408924	chr12:63813535-63813536	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557321876	chr12:63813586-63813587	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369620428	chr12:63813589-63813590	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570019642	chr12:63813603-63813604	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190564375	chr12:63813618-63813619	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115136493	chr12:63813675-63813676	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572343303	chr12:63813692-63813693	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541183953	chr12:63813693-63813694	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182396361	chr12:63813700-63813701	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575002358	chr12:63813796-63813797	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543121474	chr12:63813827-63813828	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs187021805	chr12:63813919-63813920	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs577175380	chr12:63813921-63813922	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563170161	chr12:63813975-63813976	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs528892352	chr12:63814002-63814003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191264112	chr12:63814082-63814083	Enhancers 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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63809600-63822800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:63809800-63814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:63813200-63813400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:63813200-63814200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:63813400-63814000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:63813400-63814000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:63813400-63815000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:63813600-63813800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:63813600-63815000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:63813800-63814000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:63813800-63814600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:63813800-63815000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:63814000-63814200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:63814000-63814400	Enhancers	Dnd41	blood
15	chr12:63814000-63814800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:63814200-63814400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:63814200-63814600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:63814200-63814600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr12:63814200-63814600	Active TSS	Fetal Heart	heart
20	chr12:63814200-63814800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:63814200-63814800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:63814200-63814800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:63814400-63814800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:63814600-63814800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:63814600-63815400	Weak transcription	Fetal Heart	heart
26	chr12:63820000-63822400	Enhancers	Liver	Liver

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