Variant report

Variant	esv3330427
Chromosome Location	chr12:83324659-83324881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10746260	chr12:83324704-83324705	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568585041	chr12:83324742-83324743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141990750	chr12:83324749-83324750	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182190946	chr12:83324786-83324787	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12302704	chr12:83324872-83324873	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1796300	chr12:83324879-83324880	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83279000-83336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83305800-83336800	Weak transcription	Fetal Stomach	stomach
3	chr12:83307800-83336800	Weak transcription	Fetal Lung	lung
4	chr12:83316600-83328800	Weak transcription	Pancreas	Pancrea
5	chr12:83317000-83325200	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:83318800-83325200	Weak transcription	Brain Angular Gyrus	brain
7	chr12:83319400-83325000	Weak transcription	Left Ventricle	heart
8	chr12:83321600-83325400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:83322000-83325200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:83322000-83325400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:83322200-83327200	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:83322600-83325400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:83322800-83327200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:83323200-83328000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:83323400-83329600	Weak transcription	Fetal Brain Male	brain
16	chr12:83323600-83334400	Weak transcription	Fetal Heart	heart
17	chr12:83323800-83326600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:83324000-83325200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:83324200-83324800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:83324200-83325000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:83324200-83325800	Enhancers	Brain Hippocampus Middle	brain
22	chr12:83324200-83326000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:83324200-83327200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:83324400-83325000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:83324600-83325000	Enhancers	Placenta	Placenta
26	chr12:83324600-83325800	Enhancers	Brain Substantia Nigra	brain
27	chr12:83324800-83336800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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