Variant report

Variant	nsv53397
Chromosome Location	chr12:31742424-31742428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:31742352-31742873	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:31742164-31743126	Hela-S3	cervix:	n/a	chr12:31742272-31742283
3	FOSL2	chr12:31742417-31743591	A549	lung:	n/a	chr12:31743310-31743320 chr12:31743312-31743323 chr12:31743311-31743320 chr12:31743310-31743319 chr12:31743112-31743121 chr12:31743309-31743321 chr12:31743565-31743574
4	JUND	chr12:31742394-31743644	K562	blood:	n/a	chr12:31743310-31743320 chr12:31743312-31743323 chr12:31743311-31743320 chr12:31743310-31743319 chr12:31743112-31743121 chr12:31743309-31743321 chr12:31743565-31743574
5	MAZ	chr12:31742339-31745036	IMR90	lung:	n/a	chr12:31744239-31744248
6	MTA3	chr12:31742403-31743691	GM12878	blood:	n/a	n/a
7	NFIC	chr12:31742169-31743119	GM12878	blood:	n/a	n/a
8	PML	chr12:31742339-31743760	GM12878	blood:	n/a	chr12:31743309-31743318
9	POLR2A	chr12:31742347-31744772	IMR90	lung:	n/a	n/a
10	POLR2A	chr12:31742380-31744360	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr12:31737848-31743421	HepG2	liver:	n/a	n/a
12	RAD21	chr12:31742415-31743339	A549	lung:	n/a	chr12:31743088-31743100 chr12:31743088-31743098
13	REST	chr12:31742245-31744985	H1-neurons	neurons:	n/a	chr12:31742853-31742866 chr12:31742978-31742988 chr12:31743585-31743592
14	RFX5	chr12:31741983-31743249	Hela-S3	cervix:	n/a	n/a
15	SP1	chr12:31742422-31743302	A549	lung:	n/a	chr12:31743110-31743119 chr12:31742820-31742827 chr12:31743110-31743119 chr12:31743109-31743121 chr12:31742798-31742807 chr12:31742796-31742808 chr12:31743111-31743120 chr12:31742797-31742806 chr12:31742529-31742538 chr12:31742796-31742808
16	TCF12	chr12:31742282-31743751	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31740792..31743101-chr12:31745770..31747885,3	MCF-7	breast:
2	chr12:31741307..31745552-chr12:31748528..31751513,3	MCF-7	breast:
3	chr12:31477472..31480749-chr12:31741860..31744200,4	MCF-7	breast:

Variant related genes	Relation type
DENND5B-AS1	TF binding region
ENSG00000139146	chromatin interactions
ENSG00000231788	chromatin interactions
ENSG00000252390	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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	rs367864264	chr12:31742424-31742425	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
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
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31738400-31742600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:31738400-31742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:31738400-31742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:31738400-31742600	Weak transcription	Lung	lung
5	chr12:31738600-31742600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:31738800-31742600	Weak transcription	Small Intestine	intestine
7	chr12:31740000-31742600	Weak transcription	Gastric	stomach
8	chr12:31741200-31742600	Weak transcription	Pancreas	Pancrea
9	chr12:31741400-31742600	Weak transcription	Left Ventricle	heart
10	chr12:31741400-31742600	Weak transcription	Spleen	Spleen
11	chr12:31741400-31745000	Active TSS	Ovary	ovary
12	chr12:31741600-31744200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr12:31741600-31744800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:31741600-31745000	Active TSS	Fetal Kidney	kidney
15	chr12:31741800-31742600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:31741800-31742600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:31741800-31742600	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr12:31741800-31742800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:31741800-31742800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:31741800-31743000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr12:31741800-31743600	Active TSS	Right Atrium	heart
22	chr12:31741800-31744400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:31741800-31744400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr12:31741800-31744400	Active TSS	GM12878-XiMat	blood
25	chr12:31741800-31744800	Active TSS	Brain Cingulate Gyrus	brain
26	chr12:31741800-31745000	Active TSS	Rectal Smooth Muscle	rectum
27	chr12:31742000-31742600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr12:31742000-31742600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr12:31742000-31742600	Flanking Active TSS	HUVEC	blood vessel
30	chr12:31742000-31742800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:31742000-31742800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:31742000-31742800	Flanking Active TSS	NH-A	brain
33	chr12:31742000-31744200	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr12:31742000-31744200	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr12:31742000-31744400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:31742000-31744400	Active TSS	Fetal Intestine Small	intestine
37	chr12:31742000-31744400	Active TSS	HSMM	muscle
38	chr12:31742000-31744400	Active TSS	HSMMtube	muscle
39	chr12:31742000-31744600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:31742000-31744600	Active TSS	Brain Anterior Caudate	brain
41	chr12:31742000-31744600	Active TSS	Brain Germinal Matrix	brain
42	chr12:31742000-31744600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:31742000-31744600	Active TSS	Fetal Intestine Large	intestine
44	chr12:31742000-31744800	Active TSS	NHDF-Ad	bronchial
45	chr12:31742000-31745000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr12:31742000-31745000	Active TSS	Right Ventricle	heart
47	chr12:31742200-31742600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr12:31742200-31742600	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr12:31742200-31742600	Active TSS	Fetal Brain Male	brain
50	chr12:31742200-31742800	Active TSS	H1 Cell Line	embryonic stem cell

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