Variant report

Variant	esv3504979
Chromosome Location	chr12:20877711-20878632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182825516	chr12:20877724-20877725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113334970	chr12:20877749-20877750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571161416	chr12:20877840-20877841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377430085	chr12:20877852-20877853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559473600	chr12:20877897-20877898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368020630	chr12:20877917-20877918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191661286	chr12:20877959-20877960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200546911	chr12:20878023-20878024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545376535	chr12:20878097-20878098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575977643	chr12:20878158-20878159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7969673	chr12:20878161-20878162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530274958	chr12:20878182-20878183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570181250	chr12:20878215-20878216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544688373	chr12:20878266-20878267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564680460	chr12:20878286-20878287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548348215	chr12:20878317-20878318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530424034	chr12:20878347-20878348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550509244	chr12:20878393-20878394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533726021	chr12:20878409-20878410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36057384	chr12:20878420-20878421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567164722	chr12:20878449-20878450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530390458	chr12:20878473-20878474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374077208	chr12:20878541-20878542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539386750	chr12:20878583-20878584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35290156	chr12:20878587-20878588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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 promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20860000-20881200	Weak transcription	Brain Hippocampus Middle	brain

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