Variant report

Variant	nsv974455
Chromosome Location	chr14:37890930-37894553
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	chr14:37889149..37891351-chr14:38062357..38065324,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139865	chromatin interactions
ENSG00000129514	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142919034	chr14:37890978-37890979	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs543207523	chr14:37891058-37891059	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557168503	chr14:37891126-37891127	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147422758	chr14:37891131-37891132	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186536881	chr14:37891173-37891174	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189751974	chr14:37891176-37891177	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs35146931	chr14:37891212-37891213	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs139675954	chr14:37891217-37891218	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370183773	chr14:37891243-37891244	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541496073	chr14:37891252-37891253	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561358545	chr14:37891259-37891260	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570308038	chr14:37891392-37891393	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565132251	chr14:37891415-37891416	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111790776	chr14:37891444-37891445	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550083471	chr14:37891463-37891464	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536676093	chr14:37891475-37891476	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs150653653	chr14:37891485-37891486	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532662594	chr14:37891492-37891493	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554933597	chr14:37891497-37891498	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs139766888	chr14:37891505-37891506	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs149781118	chr14:37891536-37891537	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576501069	chr14:37891539-37891540	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547824879	chr14:37891548-37891549	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs146793654	chr14:37891655-37891656	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs8022848	chr14:37891712-37891713	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556841483	chr14:37891749-37891750	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576636152	chr14:37891758-37891759	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182476025	chr14:37891806-37891807	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577444784	chr14:37891828-37891829	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373588060	chr14:37891891-37891892	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538934991	chr14:37891935-37891936	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531686126	chr14:37891937-37891938	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573214319	chr14:37891951-37891952	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541434424	chr14:37891952-37891953	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72674205	chr14:37891965-37891966	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574969179	chr14:37891989-37891990	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186484135	chr14:37891998-37891999	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563704452	chr14:37892029-37892030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191220670	chr14:37892033-37892034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143891131	chr14:37892087-37892088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374378242	chr14:37892100-37892101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140610889	chr14:37892116-37892117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34414974	chr14:37892172-37892173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372443223	chr14:37892189-37892190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112779479	chr14:37892240-37892241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183473523	chr14:37892245-37892246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139478438	chr14:37892246-37892247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188440129	chr14:37892255-37892256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547762983	chr14:37892324-37892325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567755460	chr14:37892458-37892459	Weak transcription	n/a	n/a	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
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37867800-37898800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:37877800-37913200	Weak transcription	Ovary	ovary
3	chr14:37889800-37891800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr14:37890000-37892400	Enhancers	HepG2	liver
5	chr14:37890800-37891600	Enhancers	Liver	Liver
6	chr14:37891600-37891800	Flanking Active TSS	Liver	Liver
7	chr14:37891600-37892200	Enhancers	Fetal Intestine Small	intestine
8	chr14:37891600-37895000	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:37891800-37892000	Active TSS	Liver	Liver
10	chr14:37892000-37893000	Weak transcription	Liver	Liver
11	chr14:37892000-37894800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:37892200-37895000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:37892400-37916600	Weak transcription	HepG2	liver
14	chr14:37892600-37895200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:37893000-37893400	Enhancers	Liver	Liver
16	chr14:37893600-37896200	Weak transcription	HSMM	muscle

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