Variant report

Variant	esv1740757
Chromosome Location	chr14:105262663-105262664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr14:105262625-105263043	HepG2	liver:	n/a	n/a
2	CHD2	chr14:105262648-105263144	K562	blood:	n/a	n/a
3	CTCF	chr14:105262620-105262770	GM12866	blood:	n/a	n/a
4	HCFC1	chr14:105262635-105262728	K562	blood:	n/a	n/a
5	HDAC2	chr14:105262657-105263032	HepG2	liver:	n/a	n/a
6	HEY1	chr14:105262553-105263125	HepG2	liver:	n/a	n/a
7	HEY1	chr14:105262552-105262817	HepG2	liver:	n/a	n/a
8	HNF4A	chr14:105262610-105262958	HepG2	liver:	n/a	chr14:105262825-105262840 chr14:105262825-105262840 chr14:105262825-105262840 chr14:105262825-105262839
9	HNF4A	chr14:105262616-105263059	HepG2	liver:	n/a	chr14:105262825-105262840 chr14:105262825-105262840 chr14:105262825-105262840 chr14:105262825-105262839
10	MAZ	chr14:105262279-105263058	HepG2	liver:	n/a	n/a
11	MXI1	chr14:105262633-105263028	HepG2	liver:	n/a	n/a
12	MXI1	chr14:105260082-105262844	IMR90	lung:	n/a	n/a
13	POLR2A	chr14:105262528-105262957	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:105262644-105263002	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:105260334-105263311	K562	blood:	n/a	n/a
16	POLR2A	chr14:105261858-105263165	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:105261070-105262902	Raji	blood:	n/a	n/a
18	POLR2A	chr14:105262146-105263193	HepG2	liver:	n/a	n/a
19	POLR2A	chr14:105260924-105262781	K562	blood:	n/a	n/a
20	RCOR1	chr14:105262642-105262961	HepG2	liver:	n/a	n/a
21	SIN3A	chr14:105262222-105262875	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3AK20	chr14:105262631-105262887	HepG2	liver:	n/a	n/a
23	TBP	chr14:105261996-105262693	K562	blood:	n/a	n/a
24	WRNIP1	chr14:105262517-105262717	GM12878	blood:	n/a	n/a
25	ZBTB7A	chr14:105262067-105262974	K562	blood:	n/a	n/a
26	ZBTB7A	chr14:105262198-105262713	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105219293..105222032-chr14:105260458..105263797,3	MCF-7	breast:
2	chr14:105260375..105263562-chr14:105329763..105332955,5	MCF-7	breast:
3	chr1:153643198..153643841-chr14:105262172..105262866,2	Hela-S3	cervix:
4	chr14:105260251..105263637-chr14:105331262..105334523,4	K562	blood:
5	chr14:105188879..105190553-chr14:105260910..105263562,2	MCF-7	breast:
6	chr14:105189251..105191715-chr14:105260176..105263336,3	MCF-7	breast:
7	chr14:105234268..105237912-chr14:105260331..105262677,3	K562	blood:
8	chr14:105145208..105149817-chr14:105259856..105263393,4	MCF-7	breast:
9	chr14:105261442..105265036-chr14:105329931..105332556,6	MCF-7	breast:
10	chr14:105190071..105193724-chr14:105262102..105266779,4	K562	blood:
11	chr14:105259095..105269353-chr14:105280422..105289302,26	K562	blood:

No data

Variant related genes	Relation type
ZBTB42	TF binding region
AKT1	TF binding region
ENSG00000185100	chromatin interactions
ENSG00000143621	chromatin interactions
ENSG00000256050	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000258430	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000258701	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 103 )

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	rs71129248	chr14:105262664-105262665	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105261000-105262800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:105261400-105266000	Weak transcription	Fetal Kidney	kidney
3	chr14:105262200-105262800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:105262200-105262800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:105262200-105262800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr14:105262200-105262800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr14:105262200-105262800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:105262200-105262800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:105262200-105262800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:105262200-105262800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr14:105262200-105262800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:105262200-105262800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:105262200-105262800	Flanking Active TSS	Liver	Liver
14	chr14:105262200-105262800	Flanking Active TSS	Fetal Intestine Large	intestine
15	chr14:105262200-105262800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr14:105262200-105262800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr14:105262200-105262800	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr14:105262200-105262800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr14:105262200-105262800	Flanking Active TSS	Hela-S3	cervix
20	chr14:105262200-105262800	Flanking Active TSS	NHDF-Ad	bronchial
21	chr14:105262200-105263000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr14:105262200-105263000	Flanking Active TSS	Colonic Mucosa	Colon
23	chr14:105262200-105263000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr14:105262200-105263000	Flanking Active TSS	Dnd41	blood
25	chr14:105262200-105263200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:105262200-105263200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:105262200-105263200	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr14:105262200-105263600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:105262200-105264400	Enhancers	Fetal Lung	lung
30	chr14:105262400-105262800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chr14:105262400-105262800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr14:105262400-105262800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:105262400-105262800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:105262400-105262800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:105262400-105262800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr14:105262400-105262800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr14:105262400-105262800	Enhancers	Primary B cells from cord blood	blood
38	chr14:105262400-105262800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr14:105262400-105262800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr14:105262400-105262800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr14:105262400-105262800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr14:105262400-105262800	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr14:105262400-105262800	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr14:105262400-105262800	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr14:105262400-105262800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr14:105262400-105262800	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr14:105262400-105262800	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr14:105262400-105262800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr14:105262400-105262800	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr14:105262400-105262800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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