Variant report

Variant	esv3427572
Chromosome Location	chr14:39473219-39473760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39466500..39469411-chr14:39470961..39474073,3	K562	blood:
2	chr14:39467540..39469411-chr14:39470961..39473319,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538907035	chr14:39473238-39473239	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183915685	chr14:39473271-39473272	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79040468	chr14:39473294-39473295	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2003740	chr14:39473295-39473296	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs189804114	chr14:39473331-39473332	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181450439	chr14:39473357-39473358	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574125216	chr14:39473359-39473360	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558453748	chr14:39473390-39473391	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186557128	chr14:39473391-39473392	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577063789	chr14:39473399-39473400	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545739131	chr14:39473408-39473409	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534412549	chr14:39473484-39473485	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs572922786	chr14:39473490-39473491	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189816860	chr14:39473531-39473532	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs561350542	chr14:39473551-39473552	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530155387	chr14:39473560-39473561	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550193648	chr14:39473685-39473686	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs552698041	chr14:39473711-39473712	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181583356	chr14:39473712-39473713	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs563484879	chr14:39473732-39473733	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs186180690	chr14:39473733-39473734	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs191034179	chr14:39473749-39473750	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39462200-39480400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:39463600-39476000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:39463600-39495200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:39464200-39483000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:39464800-39492600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:39465000-39473800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:39465600-39498200	Weak transcription	NH-A	brain
8	chr14:39466000-39481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:39466000-39483000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:39469200-39497400	Weak transcription	HSMM	muscle
11	chr14:39469600-39473400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr14:39470600-39474000	Active TSS	Right Atrium	heart
13	chr14:39473000-39473800	Active TSS	Adipose Nuclei	Adipose
14	chr14:39473200-39473400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:39473200-39473400	Flanking Active TSS	Left Ventricle	heart
16	chr14:39473200-39473600	Enhancers	Right Ventricle	heart
17	chr14:39473200-39474800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:39473400-39473600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:39473400-39473600	Active TSS	Left Ventricle	heart
20	chr14:39473400-39498800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:39473600-39473800	Flanking Active TSS	Left Ventricle	heart
22	chr14:39473600-39474000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr14:39473600-39474400	Weak transcription	Right Ventricle	heart
24	chr14:39473600-39476400	Enhancers	Fetal Lung	lung

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