Variant report

Variant	nsv1047190
Chromosome Location	chr14:45291979-45317303
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	chr14:45126668..45127459-chr14:45315563..45316088,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf28-2	chr14:45311363-45311409	l_978_chr14:45283074-45311409_kidney
2	lnc-C14orf28-2	chr14:45311089-45311174	l_978_chr14:45283074-45311409_kidney

Extended variants
information (count: 852 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:852 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185366980	chr14:45291993-45291994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs148350427	chr14:45292016-45292017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs375181886	chr14:45292017-45292018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374748391	chr14:45292056-45292057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs117604254	chr14:45292102-45292103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs531257185	chr14:45292104-45292105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549644614	chr14:45292112-45292113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs568049186	chr14:45292172-45292173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs535376422	chr14:45292191-45292192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557213105	chr14:45292218-45292219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs139137702	chr14:45292219-45292220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs143152264	chr14:45292233-45292234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534258919	chr14:45292238-45292239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188686330	chr14:45292267-45292268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192982078	chr14:45292303-45292304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs73343249	chr14:45292352-45292353	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556877472	chr14:45292360-45292361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs575149704	chr14:45292483-45292484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs539873716	chr14:45292511-45292512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs542545974	chr14:45292523-45292524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554369146	chr14:45292663-45292664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs367647732	chr14:45292699-45292700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs143647130	chr14:45292729-45292730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs564054773	chr14:45292730-45292731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185266825	chr14:45292748-45292749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs148094150	chr14:45292815-45292816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs553074364	chr14:45292816-45292817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529104387	chr14:45292822-45292823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112526921	chr14:45292836-45292837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs188785747	chr14:45292843-45292844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs572969427	chr14:45292857-45292858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs191724040	chr14:45292874-45292875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs565857613	chr14:45292915-45292916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs183855429	chr14:45292924-45292925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs370485949	chr14:45292938-45292939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552617588	chr14:45292960-45292961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs373929995	chr14:45293001-45293002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570888834	chr14:45293030-45293031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs188176287	chr14:45293045-45293046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556567198	chr14:45293075-45293076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141851928	chr14:45293111-45293112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs561698366	chr14:45293172-45293173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs115311899	chr14:45293210-45293211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs554216384	chr14:45293211-45293212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530928486	chr14:45293220-45293221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs572581352	chr14:45293272-45293273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546115967	chr14:45293299-45293300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs558348069	chr14:45293306-45293307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs61998148	chr14:45293345-45293346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs543117801	chr14:45293347-45293348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45290400-45293400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:45293400-45293600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:45293600-45293800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:45293800-45294400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:45294400-45295400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:45297000-45297600	Enhancers	Fetal Heart	heart
7	chr14:45297000-45297800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:45297600-45297800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:45297800-45299200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:45297800-45302400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:45298400-45299400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:45299200-45300400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:45299400-45302400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:45299800-45300000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:45300400-45301600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:45301600-45301800	Enhancers	NHDF-Ad	bronchial
17	chr14:45301600-45305000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:45301800-45302200	Weak transcription	NHDF-Ad	bronchial
19	chr14:45301800-45303600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:45302200-45304000	Enhancers	NHDF-Ad	bronchial
21	chr14:45302400-45303600	Enhancers	Fetal Kidney	kidney
22	chr14:45302400-45303800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:45302400-45303800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:45302400-45304000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr14:45302600-45303200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:45303000-45303800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr14:45303400-45303800	Enhancers	Fetal Lung	lung
28	chr14:45303400-45303800	Enhancers	NHLF	lung
29	chr14:45303400-45304200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:45303800-45304800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:45303800-45309000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:45304800-45305000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:45305000-45314400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:45309000-45309400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:45309800-45311000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:45311000-45311400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:45314400-45314800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:45314600-45315000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:45314800-45315800	Enhancers	Fetal Heart	heart
40	chr14:45314800-45317400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:45315200-45315600	Enhancers	Brain Angular Gyrus	brain
42	chr14:45315200-45315600	Active TSS	Brain Hippocampus Middle	brain
43	chr14:45315200-45315600	Enhancers	Brain Substantia Nigra	brain
44	chr14:45315200-45315600	Enhancers	Colon Smooth Muscle	Colon
45	chr14:45315200-45315800	Enhancers	Liver	Liver
46	chr14:45315400-45315600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:45315400-45315600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:45315400-45315600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:45315400-45315800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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