Variant report

Variant	esv20785
Chromosome Location	chr12:30014747-30022341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 292 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116415829	chr12:30014747-30014748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190135609	chr12:30014765-30014766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574664335	chr12:30014773-30014774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542034899	chr12:30014786-30014787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79786140	chr12:30014787-30014788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192874193	chr12:30014792-30014793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184968586	chr12:30014830-30014831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189874674	chr12:30014843-30014844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529640414	chr12:30014854-30014855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180675211	chr12:30014919-30014920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564834812	chr12:30014932-30014933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138594793	chr12:30014952-30014953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114183227	chr12:30014955-30014956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185154349	chr12:30015074-30015075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12817638	chr12:30015100-30015101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2200273	chr12:30015118-30015119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537978856	chr12:30015133-30015134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141583455	chr12:30015178-30015179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2200274	chr12:30015190-30015191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs189181095	chr12:30015216-30015217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2220130	chr12:30015289-30015290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs533575374	chr12:30015297-30015298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181989960	chr12:30015333-30015334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567049699	chr12:30015341-30015342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185778451	chr12:30015352-30015353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191769293	chr12:30015416-30015417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575441272	chr12:30015437-30015438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540076391	chr12:30015439-30015440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538789573	chr12:30015459-30015460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558187621	chr12:30015460-30015461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573154317	chr12:30015461-30015462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183232065	chr12:30015480-30015481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2200275	chr12:30015494-30015495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186196253	chr12:30015546-30015547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558489915	chr12:30015547-30015548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146188550	chr12:30015550-30015551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77583487	chr12:30015622-30015623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78249972	chr12:30015686-30015687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142722426	chr12:30015704-30015705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191436673	chr12:30015712-30015713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150588631	chr12:30015752-30015753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527263720	chr12:30015845-30015846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2220131	chr12:30015887-30015888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567012361	chr12:30015929-30015930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537505215	chr12:30016022-30016023	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549467176	chr12:30016064-30016065	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139592548	chr12:30016082-30016083	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539657551	chr12:30016103-30016104	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144423475	chr12:30016148-30016149	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182166890	chr12:30016149-30016150	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30014400-30016800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:30016000-30017600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr12:30016200-30016800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr12:30016200-30017200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr12:30016400-30017200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr12:30016600-30016800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr12:30016800-30018200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:30017000-30017200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr12:30017000-30017400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr12:30018200-30023600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:30020200-30027000	Weak transcription	Fetal Kidney	kidney

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