Variant report

Variant	esv3523741
Chromosome Location	chr14:70888699-70893997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr14:70892166-70892349	GM12878	blood:	n/a	n/a
2	GATA3	chr14:70888909-70889286	T-47D	breast:	n/a	n/a
3	GATA3	chr14:70892092-70892386	T-47D	breast:	n/a	n/a
4	NFIC	chr14:70892067-70892489	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr14:70891142-70891186	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:70891190-70891206	MCF-7	breast:	n/a	n/a
7	POLR2A	chr14:70893251-70893336	ProgFib	skin:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM20-1	chr14:70892529-70892807	ENSG00000257759
2	lnc-ADAM20-1	chr14:70892691-70892807	XLOC_011061
3	lnc-ADAM20-1	chr14:70892663-70892807	XLOC_011061

No data

Variant related genes	Relation type
SYNJ2BP	TF binding region
SYNJ2BP-COX16	TF binding region
PANK3	miRNA target sites

Extended variants
information (count: 239 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28645155	chr14:70888717-70888718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139950364	chr14:70888738-70888739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537824740	chr14:70888795-70888796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145958066	chr14:70888801-70888802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555918805	chr14:70888830-70888831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185583012	chr14:70888832-70888833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188184765	chr14:70888900-70888901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545735717	chr14:70888921-70888922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553513565	chr14:70888932-70888933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368133205	chr14:70888935-70888936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371660891	chr14:70888964-70888965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545753598	chr14:70888966-70888967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564385758	chr14:70888974-70888975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114815527	chr14:70888996-70888997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546368229	chr14:70889002-70889003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73291907	chr14:70889098-70889099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542599978	chr14:70889115-70889116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74517201	chr14:70889149-70889150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548711000	chr14:70889196-70889197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560633980	chr14:70889197-70889198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527907718	chr14:70889252-70889253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61979077	chr14:70889281-70889282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2332376	chr14:70889285-70889286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185650523	chr14:70889286-70889287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61979078	chr14:70889303-70889304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567719207	chr14:70889318-70889319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113047744	chr14:70889380-70889381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535146765	chr14:70889399-70889400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553474900	chr14:70889404-70889405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143591229	chr14:70889415-70889416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146316126	chr14:70889487-70889488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148505226	chr14:70889504-70889505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576283856	chr14:70889505-70889506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12589762	chr14:70889546-70889547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190415225	chr14:70889565-70889566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181593971	chr14:70889664-70889665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562426179	chr14:70889762-70889763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377248537	chr14:70889784-70889785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542313697	chr14:70889806-70889807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186784449	chr14:70889930-70889931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527814528	chr14:70889976-70889977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546367206	chr14:70889989-70889990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564569029	chr14:70890098-70890099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372011160	chr14:70890113-70890114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12586722	chr14:70890140-70890141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550080132	chr14:70890169-70890170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191619174	chr14:70890178-70890179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151056714	chr14:70890179-70890180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs8008210	chr14:70890188-70890189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565759711	chr14:70890198-70890199	Weak transcription	n/a	n/a	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70884000-70889000	Weak transcription	Fetal Muscle Leg	muscle
2	chr14:70888600-70889800	Enhancers	HSMM	muscle
3	chr14:70888800-70889800	Enhancers	HSMMtube	muscle
4	chr14:70889000-70890000	Enhancers	Fetal Muscle Leg	muscle
5	chr14:70889800-70890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:70890600-70892600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:70892000-70893000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:70892200-70892600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr14:70892200-70892800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:70892200-70892800	Enhancers	Psoas Muscle	Psoas
11	chr14:70892400-70892800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:70892400-70892800	Enhancers	Skeletal Muscle Female	skeletal muscle

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