Variant report

Variant	esv3348568
Chromosome Location	chr14:105058597-105058779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr14:105058332-105059108	GM12878	blood:	n/a	n/a
2	BCL3	chr14:105058585-105059125	GM12878	blood:	n/a	n/a
3	BHLHE40	chr14:105058691-105058948	K562	blood:	n/a	n/a
4	CTCF	chr14:105058714-105058760	GM19239	blood:	n/a	n/a
5	MYC	chr14:105058491-105058650	MCF-7	breast:	n/a	n/a
6	NFATC1	chr14:105058388-105059076	GM12878	blood:	n/a	n/a
7	NFATC1	chr14:105058442-105059082	GM12878	blood:	n/a	n/a
8	NFIC	chr14:105058575-105058977	GM12878	blood:	n/a	n/a
9	PBX3	chr14:105058568-105058994	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:105058447-105058831	MCF-7	breast:	n/a	n/a
11	POLR2A	chr14:105058649-105058723	MCF-7	breast:	n/a	n/a
12	STAT5A	chr14:105058528-105059029	GM12878	blood:	n/a	n/a
13	STAT5A	chr14:105058648-105058966	GM12878	blood:	n/a	n/a
14	SUZ12	chr14:105058509-105058961	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF3	chr14:105058648-105059023	GM12878	blood:	n/a	n/a
16	TCF3	chr14:105058634-105058993	GM12878	blood:	n/a	n/a
17	ZNF263	chr14:105058591-105058848	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105056847..105059828-chr14:105062201..105064275,3	MCF-7	breast:
2	chr14:105053625..105056399-chr14:105056665..105059451,2	MCF-7	breast:
3	chr14:105056244..105058754-chr14:105069412..105071602,2	MCF-7	breast:
4	chr14:105053139..105055951-chr14:105056833..105058762,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf180-1	chr14:105058659-105058677	NONHSAT040263
2	lnc-C14orf180-1	chr14:105058773-105058979	NONHSAT040263
3	lnc-C14orf180-1	chr14:105058611-105058858	NONHSAT040262

No data

Variant related genes	Relation type
ENSG00000259037	TF binding region
ENSG00000258986	chromatin interactions
ENSG00000259037	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3809460	chr14:105058609-105058610	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542027989	chr14:105058618-105058619	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs3809459	chr14:105058625-105058626	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572017273	chr14:105058650-105058651	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs541123425	chr14:105058703-105058704	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs563885461	chr14:105058736-105058737	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs532756931	chr14:105058751-105058752	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs3809458	chr14:105058758-105058759	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537952665	chr14:105058770-105058771	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	21980252	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105046400-105064000	Weak transcription	Brain Anterior Caudate	brain
2	chr14:105053800-105063800	Weak transcription	Fetal Brain Male	brain
3	chr14:105054000-105059800	Weak transcription	Right Atrium	heart
4	chr14:105054000-105061800	Weak transcription	Brain Germinal Matrix	brain
5	chr14:105054200-105058800	Weak transcription	Gastric	stomach
6	chr14:105055200-105066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:105055600-105060400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:105056400-105059600	Weak transcription	Left Ventricle	heart
9	chr14:105056800-105058600	Weak transcription	Right Ventricle	heart
10	chr14:105057400-105058600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:105057600-105058800	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:105057600-105061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:105058400-105058800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:105058400-105058800	Enhancers	Ovary	ovary
15	chr14:105058400-105059000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:105058400-105059000	Genic enhancers	Adipose Nuclei	Adipose
17	chr14:105058400-105059000	Genic enhancers	Fetal Heart	heart
18	chr14:105058400-105059400	ZNF genes & repeats	Spleen	Spleen
19	chr14:105058600-105059000	Bivalent/Poised TSS	Fetal Lung	lung
20	chr14:105058600-105060200	Enhancers	Right Ventricle	heart

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