Variant report

Variant	esv3439037
Chromosome Location	chr12:57789901-57790145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57781288..57782817-chr12:57789392..57792172,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116466142	chr12:57789918-57789919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539916884	chr12:57789945-57789946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561484055	chr12:57789948-57789949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7980310	chr12:57789960-57789961	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148264571	chr12:57789983-57789984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183991243	chr12:57789989-57789990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533214247	chr12:57790021-57790022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551404522	chr12:57790059-57790060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575403782	chr12:57790064-57790065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534006972	chr12:57790087-57790088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544142220	chr12:57790102-57790103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547105708	chr12:57790133-57790134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Adenoid cystic carcinoma	18698036	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
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	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
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	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
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57695200-57794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:57731600-57796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:57736400-57795000	Weak transcription	Right Ventricle	heart
4	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
5	chr12:57762800-57811800	Weak transcription	Pancreas	Pancrea
6	chr12:57763000-57796800	Weak transcription	Colonic Mucosa	Colon
7	chr12:57763000-57799200	Weak transcription	Psoas Muscle	Psoas
8	chr12:57763000-57800400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:57766200-57795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:57766200-57816000	Weak transcription	Fetal Lung	lung
11	chr12:57768600-57790800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:57770800-57824000	Weak transcription	Gastric	stomach
13	chr12:57774400-57819200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:57779200-57790000	Strong transcription	Liver	Liver
15	chr12:57779400-57790000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:57780400-57791400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:57780400-57795000	Weak transcription	Brain Substantia Nigra	brain
18	chr12:57780600-57795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:57780800-57823200	Weak transcription	Spleen	Spleen
20	chr12:57781200-57795000	Weak transcription	Aorta	Aorta
21	chr12:57783400-57792800	Weak transcription	K562	blood
22	chr12:57783400-57794600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:57783600-57797600	Weak transcription	Hela-S3	cervix
24	chr12:57783600-57805000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:57783800-57799200	Weak transcription	Primary B cells from cord blood	blood
26	chr12:57783800-57800200	Weak transcription	HSMMtube	muscle
27	chr12:57783800-57808600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:57783800-57809000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:57783800-57823200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:57784000-57791400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:57784200-57791200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:57784200-57794600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:57784200-57794600	Weak transcription	Fetal Heart	heart
34	chr12:57784200-57795000	Weak transcription	Brain Anterior Caudate	brain
35	chr12:57784200-57809800	Weak transcription	Osteobl	bone
36	chr12:57784200-57818000	Weak transcription	HSMM	muscle
37	chr12:57784400-57794600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:57784400-57794600	Weak transcription	HMEC	breast
39	chr12:57784400-57794800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:57784400-57794800	Weak transcription	Brain Angular Gyrus	brain
41	chr12:57784400-57795000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:57784400-57808800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:57784400-57813600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:57784400-57816400	Weak transcription	NHLF	lung
45	chr12:57784600-57795000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:57785600-57792000	Strong transcription	Fetal Intestine Small	intestine
47	chr12:57785800-57790000	Strong transcription	Fetal Thymus	thymus
48	chr12:57786000-57790000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:57786000-57790000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:57786000-57791000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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