Variant report

Variant	esv3437647
Chromosome Location	chr12:66975485-66980183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs533820816	chr12:66975506-66975507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141784004	chr12:66975510-66975511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368371410	chr12:66975513-66975514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577156278	chr12:66975514-66975515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150179783	chr12:66975577-66975578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138561300	chr12:66975587-66975588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112212594	chr12:66975589-66975590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142809035	chr12:66975590-66975591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367655191	chr12:66975616-66975617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139508265	chr12:66975624-66975625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560499239	chr12:66975663-66975664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11176281	chr12:66975729-66975730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546888215	chr12:66975774-66975775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552586802	chr12:66975809-66975810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564846696	chr12:66975810-66975811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531936731	chr12:66975855-66975856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550172265	chr12:66975856-66975857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112312809	chr12:66975897-66975898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535966845	chr12:66975938-66975939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199929379	chr12:66975987-66975988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11176283	chr12:66976003-66976004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187952225	chr12:66976012-66976013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534033104	chr12:66976041-66976042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12307029	chr12:66976066-66976067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558568945	chr12:66976108-66976109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373858030	chr12:66976110-66976111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12320617	chr12:66976112-66976113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577069712	chr12:66976146-66976147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538201553	chr12:66976219-66976220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200039870	chr12:66976290-66976291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201158925	chr12:66976357-66976358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12320874	chr12:66976451-66976452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200193888	chr12:66976506-66976507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200337210	chr12:66977059-66977060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369998073	chr12:66977245-66977246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556611901	chr12:66977268-66977269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7959404	chr12:66977331-66977332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574914509	chr12:66977368-66977369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77907078	chr12:66977393-66977394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542327791	chr12:66977414-66977415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554282889	chr12:66977423-66977424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535577465	chr12:66977430-66977431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192413833	chr12:66977434-66977435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71452314	chr12:66977460-66977461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183011285	chr12:66977462-66977463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71452315	chr12:66977487-66977488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200241445	chr12:66977587-66977588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11176284	chr12:66977631-66977632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113880639	chr12:66977642-66977643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200847633	chr12:66977668-66977669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66962800-66981400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:66978400-66978600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
3	chr12:66978600-66978800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr12:66978800-66983400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:66980000-66983200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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