Variant report

Variant	nsv972990
Chromosome Location	chr12:67391367-67394337
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	chr12:67390978..67393668-chr12:67401763..67404161,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17103134	chr12:67391409-67391410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7960930	chr12:67391421-67391422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577563515	chr12:67391423-67391424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74903297	chr12:67391442-67391443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76867350	chr12:67391449-67391450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73317159	chr12:67391452-67391453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs79916902	chr12:67391483-67391484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541826894	chr12:67391508-67391509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190898656	chr12:67391538-67391539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560026186	chr12:67391592-67391593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7961054	chr12:67391613-67391614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146689864	chr12:67391651-67391652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55862062	chr12:67391738-67391739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544172560	chr12:67391739-67391740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562032735	chr12:67391743-67391744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183154819	chr12:67391749-67391750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530945279	chr12:67391770-67391771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549659910	chr12:67391871-67391872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562023805	chr12:67391889-67391890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186014717	chr12:67391913-67391914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190434976	chr12:67391948-67391949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183040431	chr12:67391982-67391983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188070325	chr12:67391983-67391984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11830983	chr12:67392008-67392009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs546497180	chr12:67392037-67392038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192404816	chr12:67392057-67392058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570118029	chr12:67392151-67392152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369783894	chr12:67392185-67392186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35980470	chr12:67392201-67392202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537661340	chr12:67392202-67392203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148553469	chr12:67392209-67392210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71436029	chr12:67392210-67392211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182667437	chr12:67392265-67392266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574298425	chr12:67392297-67392298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535035157	chr12:67392303-67392304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76749312	chr12:67392364-67392365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140302705	chr12:67392389-67392390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369288023	chr12:67392426-67392427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374480827	chr12:67392459-67392460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545391312	chr12:67392478-67392479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150329983	chr12:67392480-67392481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374375299	chr12:67392505-67392506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377353586	chr12:67392537-67392538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77213197	chr12:67392549-67392550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543616766	chr12:67392586-67392587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17103136	chr12:67392605-67392606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs137872521	chr12:67392620-67392621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187881843	chr12:67392676-67392677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373306220	chr12:67392702-67392703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564889686	chr12:67392720-67392721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67386800-67392800	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:67390800-67393000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:67390800-67394800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:67392400-67392600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:67392600-67411800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:67392800-67393600	Enhancers	Colon Smooth Muscle	Colon
7	chr12:67393000-67393400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:67393200-67393600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:67393600-67394400	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:67394200-67397000	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links