Variant report

Variant	esv3415406
Chromosome Location	chr12:29804459-29804742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 59 )

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	rs570535359	chr12:29804466-29804467	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370233646	chr12:29804516-29804517	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532704518	chr12:29804560-29804561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78925854	chr12:29804568-29804569	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546286391	chr12:29804591-29804592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566340117	chr12:29804597-29804598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149406419	chr12:29804599-29804600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369816377	chr12:29804609-29804610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56725862	chr12:29804627-29804628	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111482597	chr12:29804670-29804671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537463859	chr12:29804674-29804675	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112727426	chr12:29804717-29804718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29778400-29826000	Weak transcription	Fetal Kidney	kidney
2	chr12:29785400-29816000	Weak transcription	Esophagus	oesophagus
3	chr12:29792000-29820800	Weak transcription	Spleen	Spleen
4	chr12:29793400-29826200	Weak transcription	NHLF	lung
5	chr12:29793600-29815600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:29794000-29820000	Weak transcription	Brain Anterior Caudate	brain
7	chr12:29794200-29808800	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:29794200-29809600	Weak transcription	Fetal Heart	heart
9	chr12:29794200-29814800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:29794200-29815600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:29794200-29815800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:29794200-29825600	Weak transcription	Fetal Stomach	stomach
13	chr12:29794200-29825600	Weak transcription	HMEC	breast
14	chr12:29794400-29805000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:29794400-29808600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:29794400-29808800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:29794400-29809600	Weak transcription	HSMMtube	muscle
18	chr12:29794400-29811400	Weak transcription	Aorta	Aorta
19	chr12:29794400-29815600	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:29794400-29819800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:29794400-29831800	Weak transcription	Ovary	ovary
22	chr12:29794600-29804800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:29794600-29806800	Weak transcription	Right Ventricle	heart
24	chr12:29794800-29825600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:29794800-29829400	Weak transcription	Hela-S3	cervix
26	chr12:29798400-29811600	Weak transcription	NHDF-Ad	bronchial
27	chr12:29799600-29804800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:29800400-29806400	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr12:29800400-29808600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:29800800-29805800	Strong transcription	Left Ventricle	heart
31	chr12:29801000-29807400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:29801000-29807600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:29801200-29804800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:29801400-29805600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:29802200-29808600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:29803200-29804800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:29803200-29806800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr12:29803400-29805600	Strong transcription	Adipose Nuclei	Adipose
39	chr12:29803400-29805800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:29803400-29809000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:29803600-29805000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:29803600-29824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:29803800-29805000	Weak transcription	HSMM	muscle
44	chr12:29803800-29806200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:29803800-29813800	Weak transcription	Psoas Muscle	Psoas
46	chr12:29804200-29811600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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