Variant report

Variant	esv3350385
Chromosome Location	chr12:60435485-60437583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538539133	chr12:60436600-60436601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558564383	chr12:60436612-60436613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527374261	chr12:60436617-60436618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572084038	chr12:60436643-60436644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187904197	chr12:60436649-60436650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561188019	chr12:60436688-60436689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138903248	chr12:60436698-60436699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142813778	chr12:60436758-60436759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78384085	chr12:60436761-60436762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547557285	chr12:60436805-60436806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567269566	chr12:60436838-60436839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192483853	chr12:60436880-60436881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532895455	chr12:60436921-60436922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534031875	chr12:60436930-60436931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552883130	chr12:60436971-60436972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542881489	chr12:60436975-60436976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146979655	chr12:60437049-60437050	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549812523	chr12:60437055-60437056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113996575	chr12:60437170-60437171	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs116421970	chr12:60437196-60437197	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs567205421	chr12:60437211-60437212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs529796485	chr12:60437274-60437275	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549752158	chr12:60437359-60437360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569502083	chr12:60437397-60437398	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs538572051	chr12:60437421-60437422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538948665	chr12:60437446-60437447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115875688	chr12:60437515-60437516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4539369	chr12:60437535-60437536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183772016	chr12:60437537-60437538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	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
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60436600-60437000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:60436800-60437000	Enhancers	HUVEC	blood vessel
3	chr12:60437000-60437400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:60437000-60438000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:60437000-60442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:60437200-60437600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:60437400-60437800	Enhancers	HUVEC	blood vessel
8	chr12:60437400-60438000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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