Variant report

Variant	nsv436140
Chromosome Location	chr12:67775135-67779010
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	chr12:67770801..67773357-chr12:67773424..67775870,2	MCF-7	breast:
2	chr12:67773965..67776941-chr12:67786704..67788501,2	MCF-7	breast:

Extended variants
information (count: 124 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539222577	chr12:67775262-67775263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530069227	chr12:67775313-67775314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557918017	chr12:67775335-67775336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576185652	chr12:67775356-67775357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550220165	chr12:67775430-67775431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537139098	chr12:67775488-67775489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77584433	chr12:67775493-67775494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7977574	chr12:67775515-67775516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185720074	chr12:67775540-67775541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370109244	chr12:67775558-67775559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188619980	chr12:67775583-67775584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578186211	chr12:67775591-67775592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545408226	chr12:67775599-67775600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143550173	chr12:67775610-67775611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138059374	chr12:67775668-67775669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181217465	chr12:67775705-67775706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551654989	chr12:67775724-67775725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79052181	chr12:67775725-67775726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528865828	chr12:67775790-67775791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547431030	chr12:67775799-67775800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570433147	chr12:67775806-67775807	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs565573273	chr12:67775827-67775828	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533978659	chr12:67775875-67775876	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs74100357	chr12:67776030-67776031	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73324577	chr12:67776032-67776033	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569792016	chr12:67776054-67776055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536852331	chr12:67776079-67776080	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs7965842	chr12:67776080-67776081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186088055	chr12:67776100-67776101	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569351361	chr12:67776108-67776109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs528562531	chr12:67776167-67776168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs557347798	chr12:67776191-67776192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs190990139	chr12:67776215-67776216	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs34298816	chr12:67776278-67776279	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs577996370	chr12:67776324-67776325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545677430	chr12:67776325-67776326	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557376795	chr12:67776331-67776332	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs575858704	chr12:67776382-67776383	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543263436	chr12:67776439-67776440	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535910866	chr12:67776471-67776472	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs561729688	chr12:67776493-67776494	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs34940211	chr12:67776533-67776534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs541961426	chr12:67776539-67776540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs184080938	chr12:67776547-67776548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs775664	chr12:67776604-67776605	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559297287	chr12:67776619-67776620	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs142576385	chr12:67776704-67776705	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551606408	chr12:67776754-67776755	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145676051	chr12:67776823-67776824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74716545	chr12:67776839-67776840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
Lung adenocarcinoma	17982442	CNVD
Bone cancer	16732325	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	17850661	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67762000-67780600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:67771600-67775200	Weak transcription	HSMMtube	muscle
3	chr12:67771600-67782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:67771800-67775600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:67775000-67782200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:67775200-67776800	Enhancers	HSMMtube	muscle
7	chr12:67775400-67775800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:67775400-67775800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:67775400-67776000	Enhancers	Osteobl	bone
10	chr12:67775600-67776200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:67775600-67776800	Enhancers	HSMM	muscle
12	chr12:67775800-67776000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:67775800-67776800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:67775800-67776800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:67775800-67776800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:67776000-67776200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:67776000-67776400	Flanking Active TSS	Osteobl	bone
18	chr12:67776000-67776800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:67776000-67776800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:67776200-67776800	Enhancers	Fetal Kidney	kidney
21	chr12:67776400-67777000	Enhancers	Osteobl	bone
22	chr12:67776800-67777200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:67776800-67779000	Weak transcription	HSMM	muscle
24	chr12:67776800-67782200	Weak transcription	HSMMtube	muscle
25	chr12:67778600-67779400	Enhancers	Fetal Intestine Large	intestine

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