Variant report

Variant	esv1804108
Chromosome Location	chr12:59398014-59403387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 212 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12367527	chr12:59398014-59398015	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs564733400	chr12:59398039-59398040	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11172860	chr12:59398044-59398045	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs113475150	chr12:59398061-59398062	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190206017	chr12:59398089-59398090	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs576578801	chr12:59398137-59398138	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537514753	chr12:59398140-59398141	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372728391	chr12:59398157-59398158	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs17121805	chr12:59398243-59398244	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11172861	chr12:59398256-59398257	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541469381	chr12:59398402-59398403	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191918172	chr12:59398448-59398449	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs574753837	chr12:59398465-59398466	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542158628	chr12:59398466-59398467	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs139546221	chr12:59398479-59398480	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530621214	chr12:59398494-59398495	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs545879583	chr12:59398501-59398502	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs11172862	chr12:59398544-59398545	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528062341	chr12:59398551-59398552	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs12301607	chr12:59398567-59398568	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs34893090	chr12:59398673-59398674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76866834	chr12:59398683-59398684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11833897	chr12:59398732-59398733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369626247	chr12:59398733-59398734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539332249	chr12:59398734-59398735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74091457	chr12:59398810-59398811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559340929	chr12:59398811-59398812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530295875	chr12:59398887-59398888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548614419	chr12:59398896-59398897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11836096	chr12:59398922-59398923	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537295854	chr12:59398938-59398939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559003064	chr12:59398939-59398940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139408411	chr12:59398972-59398973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535143988	chr12:59399009-59399010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552475098	chr12:59399015-59399016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7968111	chr12:59399070-59399071	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73118599	chr12:59399071-59399072	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553555277	chr12:59399112-59399113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139547357	chr12:59399161-59399162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542099194	chr12:59399186-59399187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557021005	chr12:59399194-59399195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11836153	chr12:59399199-59399200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545712813	chr12:59399215-59399216	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564187593	chr12:59399247-59399248	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73354975	chr12:59399302-59399303	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs184357213	chr12:59399303-59399304	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189227905	chr12:59399324-59399325	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570531681	chr12:59399343-59399344	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12812988	chr12:59399396-59399397	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12812990	chr12:59399397-59399398	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Thoracic aortic aneurysm	21092924	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
low-grade B-cell lymphoma tumor	18367492	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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59398000-59398200	Flanking Active TSS	NHDF-Ad	bronchial
2	chr12:59398000-59398600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:59398200-59398400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:59398200-59398400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:59398200-59398600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:59398200-59398600	Active TSS	NHDF-Ad	bronchial
7	chr12:59398200-59400600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:59398400-59398600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:59398400-59398600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:59398600-59399200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:59398600-59399200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:59398600-59399600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:59398600-59400200	Enhancers	NHDF-Ad	bronchial
14	chr12:59399200-59399400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr12:59399200-59399600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:59399200-59399600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:59399200-59399800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:59399400-59399600	Enhancers	Adipose Nuclei	Adipose
19	chr12:59399400-59399600	Enhancers	Psoas Muscle	Psoas
20	chr12:59399400-59399800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:59399600-59400000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:59399600-59400600	Weak transcription	Adipose Nuclei	Adipose
23	chr12:59399600-59408400	Weak transcription	Psoas Muscle	Psoas
24	chr12:59399800-59400200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr12:59400600-59401000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:59400600-59401000	Enhancers	Adipose Nuclei	Adipose
27	chr12:59401000-59402000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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