Variant report

Variant	esv3329007
Chromosome Location	chr12:32333105-32333576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32330903..32333479-chr12:32337570..32339472,2	MCF-7	breast:
2	chr12:32329357..32331933-chr12:32333033..32336522,3	K562	blood:
3	chr12:32331693..32333915-chr12:32344800..32346339,2	MCF-7	breast:
4	chr12:32331886..32334489-chr12:32336141..32338880,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 59 )

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	rs528852745	chr12:32333116-32333117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35890616	chr12:32333121-32333122	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568769904	chr12:32333187-32333188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537796295	chr12:32333202-32333203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562393430	chr12:32333226-32333227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147923865	chr12:32333324-32333325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184887501	chr12:32333357-32333358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533763104	chr12:32333372-32333373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566783653	chr12:32333382-32333383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368783146	chr12:32333389-32333390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574055840	chr12:32333436-32333437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145650957	chr12:32333477-32333478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556636574	chr12:32333478-32333479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32269000-32340200	Weak transcription	Dnd41	blood
2	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
3	chr12:32299400-32334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:32299600-32346200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:32300200-32336600	Weak transcription	A549	lung
6	chr12:32303000-32336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:32309400-32353400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:32309600-32336400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:32309600-32346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:32309600-32351400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:32309600-32352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:32309800-32336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:32309800-32336600	Weak transcription	HMEC	breast
14	chr12:32313200-32336600	Weak transcription	NH-A	brain
15	chr12:32313400-32369400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:32315400-32346000	Weak transcription	Primary B cells from cord blood	blood
17	chr12:32315600-32336600	Weak transcription	HSMM	muscle
18	chr12:32316400-32334600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:32319800-32340400	Weak transcription	Fetal Intestine Small	intestine
20	chr12:32319800-32343600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:32323600-32373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:32325400-32334000	Weak transcription	Fetal Brain Male	brain
23	chr12:32325400-32347000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:32325600-32334600	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:32325800-32333400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:32326000-32351400	Weak transcription	Osteobl	bone
27	chr12:32326000-32353200	Weak transcription	Ovary	ovary
28	chr12:32326200-32338400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:32327600-32337800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:32328600-32337800	Weak transcription	Aorta	Aorta
31	chr12:32330800-32334000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr12:32331000-32333800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:32331000-32334000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:32331200-32333600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr12:32331600-32336600	Weak transcription	HSMMtube	muscle
36	chr12:32331800-32333400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:32331800-32336800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:32332000-32334600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:32332000-32334600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:32332000-32342800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:32332200-32333200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:32332200-32345800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:32332200-32346600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:32332200-32352200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:32332400-32338200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:32332400-32343600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:32332400-32345800	Weak transcription	Fetal Brain Female	brain
48	chr12:32332600-32333400	Enhancers	Left Ventricle	heart
49	chr12:32332600-32346200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:32333000-32333200	Enhancers	Brain Germinal Matrix	brain

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