Variant report

Variant	esv3490344
Chromosome Location	chr12:30477535-30482033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561187379	chr12:30480606-30480607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528352686	chr12:30480631-30480632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560915282	chr12:30480645-30480646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113651913	chr12:30480670-30480671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529671378	chr12:30480678-30480679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549591990	chr12:30480681-30480682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11050821	chr12:30480703-30480704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369814410	chr12:30480741-30480742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115550115	chr12:30480746-30480747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546998851	chr12:30480768-30480769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566776820	chr12:30480829-30480830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534218952	chr12:30480839-30480840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373585405	chr12:30480876-30480877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11050822	chr12:30480882-30480883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374364797	chr12:30480886-30480887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79415637	chr12:30480945-30480946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538453966	chr12:30480972-30480973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556348047	chr12:30480986-30480987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578152068	chr12:30481016-30481017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs12831645	chr12:30481023-30481024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12809432	chr12:30481024-30481025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552245873	chr12:30481056-30481057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs572510743	chr12:30481060-30481061	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs4032092	chr12:30481061-30481062	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192954711	chr12:30481075-30481076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs202125519	chr12:30481158-30481159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4032075	chr12:30481159-30481160	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs183853411	chr12:30481162-30481163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532081356	chr12:30481164-30481165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547137078	chr12:30481165-30481166	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs73075843	chr12:30481166-30481167	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4032076	chr12:30481219-30481220	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549382243	chr12:30481224-30481225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs567964458	chr12:30481246-30481247	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538011793	chr12:30481265-30481266	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs4265664	chr12:30481279-30481280	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575663501	chr12:30481296-30481297	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552585979	chr12:30481307-30481308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11513492	chr12:30481317-30481318	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539125257	chr12:30481333-30481334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539925653	chr12:30481344-30481345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs377457911	chr12:30481379-30481380	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs4032077	chr12:30481382-30481383	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536673512	chr12:30481388-30481389	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs11050823	chr12:30481389-30481390	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138055465	chr12:30481393-30481394	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188192658	chr12:30481395-30481396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs367879420	chr12:30481405-30481406	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs558330288	chr12:30481410-30481411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4032078	chr12:30481411-30481412	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30480600-30482800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:30481000-30482400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:30482000-30482400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:30482000-30482800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:30482000-30483000	Enhancers	Hela-S3	cervix

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