Variant report

Variant	nsv54730
Chromosome Location	chr12:29863017-29863020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 57 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112704970	chr12:29863017-29863018	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:29853400-29864000	Weak transcription	Hela-S3	cervix
3	chr12:29854400-29866000	Weak transcription	HSMMtube	muscle
4	chr12:29854400-29879000	Weak transcription	Ovary	ovary
5	chr12:29855600-29878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:29855800-29891200	Weak transcription	NHLF	lung
7	chr12:29859000-29864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:29859200-29863200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:29859200-29867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:29860400-29863600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:29860800-29864000	Weak transcription	Spleen	Spleen
12	chr12:29861400-29863400	Enhancers	Fetal Brain Female	brain
13	chr12:29861600-29863200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:29861600-29863400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:29861600-29864600	Enhancers	Fetal Muscle Leg	muscle
16	chr12:29861800-29863400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:29862000-29863400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:29862000-29863400	Enhancers	Fetal Brain Male	brain
19	chr12:29862000-29864200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:29862000-29864800	Enhancers	Fetal Stomach	stomach
21	chr12:29862000-29867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:29862200-29863200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:29862200-29863400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:29862200-29863400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:29862200-29863400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:29862200-29863400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:29862200-29863400	Enhancers	NHEK	skin
28	chr12:29862200-29863600	Enhancers	HMEC	breast
29	chr12:29862600-29863200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:29862600-29863400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:29862600-29863400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:29862600-29863400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:29862600-29863400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:29862600-29863400	Enhancers	Brain Anterior Caudate	brain
35	chr12:29862600-29863400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr12:29862600-29863400	Enhancers	Fetal Heart	heart
37	chr12:29862600-29863400	Enhancers	NHDF-Ad	bronchial
38	chr12:29862600-29864600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr12:29862600-29868000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr12:29862800-29863200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr12:29862800-29863200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr12:29862800-29863200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:29862800-29863200	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr12:29862800-29863200	Flanking Active TSS	Fetal Lung	lung
45	chr12:29862800-29863400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr12:29862800-29863400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:29862800-29863400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:29862800-29863400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:29862800-29863400	Enhancers	Aorta	Aorta
50	chr12:29862800-29863400	Enhancers	Brain Angular Gyrus	brain

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