Variant report

Variant	esv3395484
Chromosome Location	chr12:83253840-83254081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527279853	chr12:83253840-83253841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138122665	chr12:83253875-83253876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11115462	chr12:83253902-83253903	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560278987	chr12:83253914-83253915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142229242	chr12:83253939-83253940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527733160	chr12:83253940-83253941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540110953	chr12:83253942-83253943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562023628	chr12:83253943-83253944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372263507	chr12:83253946-83253947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529062481	chr12:83254024-83254025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1615865	chr12:83254031-83254032	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs138870495	chr12:83254043-83254044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74106148	chr12:83254062-83254063	Weak transcription Strong transcription Enhancers	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83206600-83255200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:83212400-83257000	Weak transcription	Gastric	stomach
3	chr12:83236000-83264000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
5	chr12:83246800-83256000	Weak transcription	Brain Germinal Matrix	brain
6	chr12:83248600-83255800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:83249200-83256000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:83249400-83256800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:83249400-83261000	Weak transcription	Fetal Heart	heart
10	chr12:83249600-83254000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:83249600-83261200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:83249800-83256000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:83250000-83264600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:83250400-83256600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:83251000-83255200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:83251000-83257000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:83251200-83256000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:83251200-83256000	Weak transcription	Small Intestine	intestine
19	chr12:83251400-83254000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:83251400-83256000	Weak transcription	Brain Angular Gyrus	brain
21	chr12:83251400-83258000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:83251400-83259000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:83251400-83265000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:83251600-83254200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:83251600-83260800	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:83252200-83254000	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:83252200-83258600	Weak transcription	Fetal Intestine Small	intestine
28	chr12:83252200-83260400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:83252200-83261600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:83252200-83264000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:83252200-83273000	Weak transcription	Pancreas	Pancrea
32	chr12:83252400-83254800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:83252400-83257600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:83252800-83254200	Weak transcription	Fetal Kidney	kidney
35	chr12:83252800-83254800	Weak transcription	Fetal Lung	lung
36	chr12:83252800-83254800	Weak transcription	HUVEC	blood vessel
37	chr12:83252800-83261800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:83252800-83262000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:83252800-83262000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:83252800-83264000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:83253200-83254000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:83253200-83254000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr12:83253400-83254800	Enhancers	Brain Substantia Nigra	brain
44	chr12:83253600-83255200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:83253600-83256800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:83253800-83254200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:83253800-83255800	Weak transcription	Brain Anterior Caudate	brain
48	chr12:83253800-83256200	Enhancers	Fetal Stomach	stomach
49	chr12:83253800-83256800	Weak transcription	Fetal Brain Male	brain
50	chr12:83254000-83254400	Strong transcription	Monocytes-CD14+_RO01746	blood

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