Variant report

Variant	esv3506853
Chromosome Location	chr14:70689987-70690275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr14:70690031-70690525	K562	blood:	n/a	n/a
2	CEBPB	chr14:70690188-70690384	A549	lung:	n/a	n/a
3	CEBPB	chr14:70690132-70690487	K562	blood:	n/a	n/a
4	CEBPB	chr14:70690174-70690468	HepG2	liver:	n/a	n/a
5	CTCF	chr14:70690271-70690824	K562	blood:	n/a	n/a
6	ELF1	chr14:70690229-70690741	K562	blood:	n/a	n/a
7	EP300	chr14:70690232-70690860	K562	blood:	n/a	n/a
8	HEY1	chr14:70690234-70690602	K562	blood:	n/a	n/a
9	HEY1	chr14:70689960-70690131	K562	blood:	n/a	n/a
10	IRF1	chr14:70690095-70690693	K562	blood:	n/a	n/a
11	MAZ	chr14:70690265-70690812	K562	blood:	n/a	n/a
12	MYC	chr14:70690245-70690927	K562	blood:	n/a	n/a
13	MYC	chr14:70689995-70690804	K562	blood:	n/a	n/a
14	POLR2A	chr14:70690233-70690690	K562	blood:	n/a	n/a
15	POLR2A	chr14:70689886-70690682	K562	blood:	n/a	n/a
16	POLR2A	chr14:70689931-70690743	GM19099	blood:	n/a	n/a
17	POLR2A	chr14:70689918-70690131	K562	blood:	n/a	n/a
18	POLR2A	chr14:70689998-70690697	K562	blood:	n/a	n/a
19	POLR2A	chr14:70690240-70690650	K562	blood:	n/a	n/a
20	POLR2A	chr14:70689932-70690124	K562	blood:	n/a	n/a
21	POLR2A	chr14:70689985-70690724	K562	blood:	n/a	n/a
22	POLR2A	chr14:70690250-70690790	PBDE	blood:	n/a	n/a
23	RCOR1	chr14:70689971-70690808	K562	blood:	n/a	n/a
24	TAF1	chr14:70690245-70690462	K562	blood:	n/a	n/a
25	TBL1XR1	chr14:70690258-70690444	K562	blood:	n/a	n/a
26	TBL1XR1	chr14:70690245-70690443	K562	blood:	n/a	n/a
27	TBP	chr14:70690042-70690705	K562	blood:	n/a	n/a
28	UBTF	chr14:70690043-70690087	K562	blood:	n/a	n/a
29	YY1	chr14:70689991-70690107	K562	blood:	n/a	n/a
30	ZNF263	chr14:70690266-70690700	HEK293-T-REx	kidney:	n/a	n/a
31	ZNF384	chr14:70690001-70690522	GM12878	blood:	n/a	n/a
32	ZNF384	chr14:70689874-70690880	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000258422	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553702972	chr14:70689993-70689994	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs114560836	chr14:70690010-70690011	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538924028	chr14:70690049-70690050	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs67403471	chr14:70690053-70690054	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs76983211	chr14:70690073-70690074	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs527463562	chr14:70690080-70690081	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182902031	chr14:70690169-70690170	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs202062294	chr14:70690219-70690220	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs57277684	chr14:70690240-70690241	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140059974	chr14:70690241-70690242	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs575672056	chr14:70690251-70690252	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70689600-70690800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:70689600-70690800	Active TSS	K562	blood
3	chr14:70689600-70691000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:70689800-70690200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:70689800-70690600	Active TSS	Primary hematopoietic stem cells	blood
6	chr14:70689800-70690800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:70689800-70690800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:70690000-70690200	Active TSS	Fetal Muscle Leg	muscle
9	chr14:70690000-70690600	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr14:70690000-70690600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:70690000-70690600	Active TSS	HSMM	muscle
12	chr14:70690000-70690600	Active TSS	NH-A	brain
13	chr14:70690000-70690800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:70690000-70691000	Active TSS	HSMMtube	muscle
15	chr14:70690200-70690400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
16	chr14:70690200-70690400	Active TSS	Placenta	Placenta
17	chr14:70690200-70690400	Bivalent/Poised TSS	Left Ventricle	heart
18	chr14:70690200-70690400	Active TSS	GM12878-XiMat	blood
19	chr14:70690200-70690600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr14:70690200-70690600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:70690200-70690600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:70690200-70690600	Active TSS	Brain Cingulate Gyrus	brain
23	chr14:70690200-70690600	Active TSS	Duodenum Mucosa	Duodenum
24	chr14:70690200-70690600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
25	chr14:70690200-70690600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
26	chr14:70690200-70690600	Active TSS	Fetal Thymus	thymus
27	chr14:70690200-70690600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
28	chr14:70690200-70690600	Bivalent/Poised TSS	NHEK	skin
29	chr14:70690200-70690800	Active TSS	H1 Cell Line	embryonic stem cell
30	chr14:70690200-70690800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:70690200-70690800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:70690200-70690800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:70690200-70690800	Active TSS	Adipose Nuclei	Adipose
34	chr14:70690200-70690800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr14:70690200-70690800	Active TSS	Fetal Stomach	stomach
36	chr14:70690200-70690800	Active TSS	Psoas Muscle	Psoas
37	chr14:70690200-70690800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood

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