Variant report

Variant	esv3347247
Chromosome Location	chr12:67728199-67733930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs12828306	chr12:67728202-67728203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12826714	chr12:67728211-67728212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542628860	chr12:67728212-67728213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148844015	chr12:67728225-67728226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12826742	chr12:67728257-67728258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12826748	chr12:67728269-67728270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12828357	chr12:67728284-67728285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12828520	chr12:67728311-67728312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12828521	chr12:67728312-67728313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573024691	chr12:67728370-67728371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143514931	chr12:67728406-67728407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540522699	chr12:67728445-67728446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35821143	chr12:67728504-67728505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552628037	chr12:67728505-67728506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566121896	chr12:67728537-67728538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34986353	chr12:67728598-67728599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148012447	chr12:67728645-67728646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544045470	chr12:67728665-67728666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535015092	chr12:67728689-67728690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562623153	chr12:67728696-67728697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117399417	chr12:67728704-67728705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143392541	chr12:67728731-67728732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145773453	chr12:67728813-67728814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527933874	chr12:67728917-67728918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138889452	chr12:67728925-67728926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571098875	chr12:67728955-67728956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190434613	chr12:67728969-67728970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs775640	chr12:67728993-67728994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568937950	chr12:67729003-67729004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181317898	chr12:67729055-67729056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185447235	chr12:67729066-67729067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35611684	chr12:67729091-67729092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191233530	chr12:67729094-67729095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2118311	chr12:67729176-67729177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs548107343	chr12:67729185-67729186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73134716	chr12:67729194-67729195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184932959	chr12:67729204-67729205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189442692	chr12:67729206-67729207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182603077	chr12:67729213-67729214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576753395	chr12:67729214-67729215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1082710	chr12:67729219-67729220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs559500377	chr12:67729227-67729228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562359664	chr12:67729234-67729235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530108919	chr12:67729258-67729259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3947290	chr12:67729296-67729297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73322620	chr12:67729418-67729419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs556245849	chr12:67729419-67729420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71452343	chr12:67729478-67729479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35747480	chr12:67729490-67729491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398116550	chr12:67729491-67729492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Ovarian clear cell carcinoma	21343371	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	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67716600-67732000	Weak transcription	HMEC	breast
2	chr12:67716600-67748000	Weak transcription	HSMM	muscle
3	chr12:67717400-67731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:67728400-67748000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:67731400-67733600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:67732400-67733400	Weak transcription	Psoas Muscle	Psoas
7	chr12:67733400-67733600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:67733400-67733600	ZNF genes & repeats	Psoas Muscle	Psoas
9	chr12:67733400-67733800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:67733400-67733800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:67733400-67733800	ZNF genes & repeats	Liver	Liver
12	chr12:67733400-67734200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:67733600-67740600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:67733600-67748200	Weak transcription	Psoas Muscle	Psoas
15	chr12:67733800-67735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:67733800-67748000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:67733800-67761800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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