Variant report

Variant	nsv1054423
Chromosome Location	chr14:38794426-38812390
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	chr14:38794042..38795587-chr14:38809316..38811122,2	MCF-7	breast:
2	chr14:38794042..38795587-chr14:38809316..38811122,2	MCF-7	breast:

Extended variants
information (count: 410 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146353762	chr14:38798612-38798613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116950113	chr14:38798632-38798633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191137880	chr14:38798689-38798690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562402955	chr14:38798696-38798697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139878876	chr14:38798712-38798713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs928103	chr14:38798748-38798749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557892158	chr14:38798749-38798750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs928104	chr14:38798765-38798766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539913018	chr14:38798824-38798825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559831105	chr14:38798906-38798907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs928105	chr14:38798961-38798962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182917843	chr14:38798975-38798976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2104717	chr14:38798992-38798993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186361826	chr14:38799005-38799006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141618047	chr14:38799040-38799041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375732261	chr14:38799066-38799067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149591756	chr14:38799076-38799077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370617759	chr14:38799110-38799111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551708532	chr14:38799121-38799122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373822052	chr14:38799147-38799148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527501644	chr14:38799207-38799208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377601726	chr14:38799256-38799257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369847319	chr14:38799258-38799259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146193865	chr14:38799277-38799278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148404232	chr14:38799296-38799297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535994350	chr14:38799308-38799309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549100264	chr14:38799315-38799316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569245254	chr14:38799339-38799340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80249754	chr14:38799380-38799381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73285481	chr14:38799396-38799397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115626324	chr14:38799442-38799443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370295705	chr14:38799467-38799468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534110984	chr14:38799504-38799505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1168453	chr14:38799520-38799521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs573650601	chr14:38799596-38799597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190183762	chr14:38799626-38799627	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs548851174	chr14:38799653-38799654	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs555843462	chr14:38799711-38799712	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs1475516	chr14:38799740-38799741	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1183883	chr14:38799796-38799797	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61156259	chr14:38799806-38799807	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182716684	chr14:38799817-38799818	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs1183884	chr14:38799819-38799820	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187399233	chr14:38799829-38799830	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529330582	chr14:38799879-38799880	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs549460613	chr14:38799883-38799884	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569130306	chr14:38799973-38799974	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs28516790	chr14:38802015-38802016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560071730	chr14:38802039-38802040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554297835	chr14:38802052-38802053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intellectual disability	21811512	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38798600-38799200	Enhancers	Hela-S3	cervix
2	chr14:38798600-38799400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:38798600-38800000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:38798800-38800000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:38799000-38800000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:38799200-38799800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:38799400-38799600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr14:38799600-38800000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:38802000-38803400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:38802600-38804400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:38804400-38805000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr14:38805200-38806200	Enhancers	HUVEC	blood vessel
13	chr14:38805400-38806000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:38805600-38805800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:38805800-38809000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:38806000-38806200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:38806000-38807400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:38806200-38811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:38807400-38810000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:38808400-38809800	Enhancers	NHDF-Ad	bronchial
21	chr14:38808600-38809600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:38808800-38809600	Enhancers	Hela-S3	cervix
23	chr14:38809000-38809200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:38809000-38809400	Enhancers	HSMM	muscle
25	chr14:38809000-38809600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:38809000-38809600	Enhancers	NHLF	lung
27	chr14:38809200-38811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:38809400-38809600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:38809400-38811200	Weak transcription	HSMM	muscle
30	chr14:38809600-38811200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:38809600-38811200	Weak transcription	Hela-S3	cervix
32	chr14:38809600-38811200	Weak transcription	NHLF	lung
33	chr14:38809800-38811200	Weak transcription	NHDF-Ad	bronchial
34	chr14:38810000-38810600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:38810000-38811200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:38810600-38813000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr14:38811200-38811600	Enhancers	Brain Hippocampus Middle	brain
38	chr14:38811200-38812600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:38811200-38812600	Enhancers	Hela-S3	cervix
40	chr14:38811200-38812600	Enhancers	NHDF-Ad	bronchial
41	chr14:38811200-38812800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:38811200-38812800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:38811200-38812800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:38811200-38812800	Enhancers	HSMM	muscle
45	chr14:38811200-38812800	Enhancers	NHLF	lung
46	chr14:38811200-38813000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:38811600-38812400	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links