Variant report

Variant	nsv82149
Chromosome Location	chr14:38052502-38052503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:38013794..38017816-chr14:38049871..38055560,6	MCF-7	breast:
2	chr14:38052164..38054489-chr14:38155614..38158177,2	MCF-7	breast:
3	chr14:38050621..38053581-chr14:38135495..38137848,2	MCF-7	breast:
4	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
5	chr14:38021477..38023434-chr14:38051873..38053665,2	MCF-7	breast:
6	chr14:38052050..38054072-chr8:119123824..119125742,2	MCF-7	breast:
7	chr14:38052352..38053048-chr14:38063149..38064449,4	MCF-7	breast:
8	chr14:38006457..38009317-chr14:38049847..38052544,2	MCF-7	breast:
9	chr14:37697471..37699396-chr14:38051501..38053443,2	MCF-7	breast:
10	chr14:38051959..38054896-chr14:38346073..38349054,2	MCF-7	breast:
11	chr14:38051890..38052684-chr14:38061075..38061786,2	MCF-7	breast:
12	chr14:37747627..37749985-chr14:38051291..38052830,2	MCF-7	breast:
13	chr14:38051074..38053594-chr16:89788190..89790581,2	MCF-7	breast:
14	chr14:38010426..38020494-chr14:38050537..38062032,33	MCF-7	breast:
15	chr14:38018016..38020323-chr14:38050834..38052652,3	MCF-7	breast:
16	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129514	chromatin interactions
ENSG00000158805	chromatin interactions
ENSG00000182197	chromatin interactions
ENSG00000151338	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 59 )

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	rs113593993	chr14:38052502-38052503	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38051800-38052600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr14:38051800-38053600	Active TSS	HepG2	liver
3	chr14:38051800-38054600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:38052000-38055200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:38052200-38052600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:38052200-38052600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr14:38052200-38053400	Active TSS	A549	lung
8	chr14:38052200-38053800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr14:38052200-38054200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
10	chr14:38052400-38052600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr14:38052400-38052600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:38052400-38052600	Enhancers	Liver	Liver
13	chr14:38052400-38052600	Active TSS	Colonic Mucosa	Colon
14	chr14:38052400-38052600	Active TSS	Duodenum Mucosa	Duodenum
15	chr14:38052400-38052800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:38052400-38052800	Bivalent Enhancer	NH-A	brain
17	chr14:38052400-38053000	Bivalent/Poised TSS	Stomach Mucosa	stomach
18	chr14:38052400-38053200	Bivalent/Poised TSS	Lung	lung
19	chr14:38052400-38053400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr14:38052400-38053400	Bivalent/Poised TSS	Small Intestine	intestine
21	chr14:38052400-38053400	Active TSS	Hela-S3	cervix
22	chr14:38052400-38053600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:38052400-38053600	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr14:38052400-38054600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:38052400-38054800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr14:38052400-38054800	Active TSS	Esophagus	oesophagus

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