Variant report

Variant	esv3341292
Chromosome Location	chr14:45384427-45386975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr14:45384191-45384446	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr14:45384264-45384503	K562	blood:	n/a	n/a
3	FOXA1	chr14:45385464-45385804	HepG2	liver:	n/a	n/a
4	FOXA2	chr14:45386380-45386613	HepG2	liver:	n/a	n/a
5	GATA1	chr14:45383456-45384511	PBDE	blood:	n/a	chr14:45383823-45383834
6	MYC	chr14:45386536-45386628	MCF-7	breast:	n/a	n/a
7	NFYA	chr14:45384208-45384471	K562	blood:	n/a	chr14:45384287-45384305
8	NFYB	chr14:45384155-45384431	K562	blood:	n/a	n/a
9	POLR2A	chr14:45385531-45385748	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:45386591-45386627	A549	lung:	n/a	n/a
11	POLR2A	chr14:45385406-45385519	MCF-7	breast:	n/a	n/a
12	POLR2A	chr14:45386785-45386985	MCF10A-Er-Src	breast:	n/a	n/a
13	SP1	chr14:45384077-45384498	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr14:45384080-45384538	H1-hESC	embryonic stem cell:	n/a	n/a
15	SP1	chr14:45384049-45384458	HepG2	liver:	n/a	n/a
16	TBP	chr14:45384234-45384501	HepG2	liver:	n/a	n/a
17	TBP	chr14:45384246-45384460	K562	blood:	n/a	n/a
18	ZBTB33	chr14:45385447-45385811	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45382331..45385097-chr14:45486659..45488651,2	MCF-7	breast:
2	chr14:45386718..45388561-chr14:45389877..45392434,2	MCF-7	breast:
3	chr14:45365141..45366698-chr14:45382988..45384781,2	MCF-7	breast:
4	chr14:45383020..45384802-chr14:45602016..45604484,2	MCF-7	breast:
5	chr14:45384727..45387578-chr14:45430910..45433752,2	MCF-7	breast:
6	chr14:45383078..45384611-chr14:45736865..45739302,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258949	TF binding region
ENSG00000179454	chromatin interactions
ENSG00000198718	chromatin interactions
ENSG00000258633	chromatin interactions
ENSG00000179476	chromatin interactions
ENSG00000100442	chromatin interactions

Extended variants
information (count: 295 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191738727	chr14:45384444-45384445	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs185013099	chr14:45384446-45384447	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs534281898	chr14:45384450-45384451	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs552556312	chr14:45384457-45384458	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs577832373	chr14:45384480-45384481	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs377420523	chr14:45384529-45384530	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs189567323	chr14:45384531-45384532	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs181060051	chr14:45384577-45384578	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575394937	chr14:45384608-45384609	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs543924066	chr14:45384617-45384618	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs542988619	chr14:45384651-45384652	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs377063817	chr14:45384700-45384701	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs373972206	chr14:45384701-45384702	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs554050794	chr14:45384705-45384706	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs573865862	chr14:45384726-45384727	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs529410107	chr14:45384773-45384774	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs369612127	chr14:45384856-45384857	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs547783907	chr14:45384878-45384879	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs149738811	chr14:45384916-45384917	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs147851818	chr14:45384920-45384921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs76456859	chr14:45384975-45384976	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570229891	chr14:45385014-45385015	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs185803146	chr14:45385072-45385073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549177294	chr14:45385095-45385096	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139624140	chr14:45385110-45385111	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs534436852	chr14:45385118-45385119	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552532247	chr14:45385123-45385124	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs571180923	chr14:45385178-45385179	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112066033	chr14:45385231-45385232	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557012969	chr14:45385270-45385271	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs147588142	chr14:45385271-45385272	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs370040244	chr14:45385306-45385307	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs73348968	chr14:45385343-45385344	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs189488683	chr14:45385347-45385348	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs72474137	chr14:45385349-45385350	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs79858356	chr14:45385351-45385352	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs372891868	chr14:45385360-45385361	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541573451	chr14:45385372-45385373	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140115070	chr14:45385374-45385375	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs368008235	chr14:45385375-45385376	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs533219153	chr14:45385377-45385378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs111506363	chr14:45385384-45385385	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs138483484	chr14:45385386-45385387	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs199923258	chr14:45385405-45385406	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531115143	chr14:45385406-45385407	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs549140468	chr14:45385407-45385408	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs199690551	chr14:45385409-45385410	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs377737278	chr14:45385418-45385419	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs145132572	chr14:45385419-45385420	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs546422122	chr14:45385421-45385422	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45368200-45397400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:45375400-45403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:45382000-45400600	Weak transcription	Left Ventricle	heart
4	chr14:45382000-45408000	Weak transcription	Pancreas	Pancrea
5	chr14:45382800-45384800	Enhancers	Fetal Heart	heart
6	chr14:45383000-45397600	Weak transcription	Liver	Liver
7	chr14:45383000-45405800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:45384000-45384600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr14:45384000-45384600	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:45384000-45384600	Active TSS	HepG2	liver
11	chr14:45384000-45384600	Active TSS	NHDF-Ad	bronchial
12	chr14:45384000-45384800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:45384200-45384600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:45384200-45384600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:45384200-45384600	Enhancers	Fetal Lung	lung
16	chr14:45384200-45384800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:45384200-45384800	Enhancers	Brain Hippocampus Middle	brain
18	chr14:45384400-45384600	Enhancers	Brain Anterior Caudate	brain
19	chr14:45384400-45406800	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:45384600-45384800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr14:45384600-45384800	Enhancers	HepG2	liver
22	chr14:45384600-45386400	Weak transcription	Fetal Lung	lung
23	chr14:45384800-45397000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:45384800-45397400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:45384800-45408000	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:45386400-45386600	ZNF genes & repeats	Fetal Lung	lung
27	chr14:45386600-45405600	Weak transcription	Fetal Lung	lung
28	chr14:45386800-45405600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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