Variant report

Variant	nsv518127
Chromosome Location	chr14:43162743-43205645
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:43199863..43201590-chr14:43205073..43207655,2	MCF-7	breast:
2	chr14:43169956..43172607-chr14:43173470..43175872,2	MCF-7	breast:
3	chr14:43180662..43182425-chr14:43185874..43188790,2	MCF-7	breast:
4	chr14:43180662..43182425-chr14:43185874..43188790,2	MCF-7	breast:
5	chr14:43169956..43172607-chr14:43173470..43175872,2	MCF-7	breast:
6	chr14:43199863..43201590-chr14:43205073..43207655,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-1	chr14:43172308-43172404	ENSG00000258394.1
2	lnc-RP11-214N1.1.1-1	chr14:43172607-43172858	ENSG00000258394.1

No data

Extended variants
information (count: 229 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72684028	chr14:43172024-43172025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188929761	chr14:43172049-43172050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542538490	chr14:43172061-43172062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554610125	chr14:43172098-43172099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531849255	chr14:43172104-43172105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550345264	chr14:43172110-43172111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562393604	chr14:43172132-43172133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148957259	chr14:43172155-43172156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373025953	chr14:43172203-43172204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181680065	chr14:43172273-43172274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1698533	chr14:43172278-43172279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1698534	chr14:43172343-43172344	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143704369	chr14:43172386-43172387	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs563371742	chr14:43172465-43172466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200729258	chr14:43172466-43172467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151207991	chr14:43172490-43172491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576958897	chr14:43172506-43172507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77083421	chr14:43172507-43172508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537698080	chr14:43172521-43172522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59852889	chr14:43172526-43172527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201679760	chr14:43172545-43172546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185316689	chr14:43172599-43172600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568048922	chr14:43172654-43172655	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs535336753	chr14:43172673-43172674	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs1698535	chr14:43172692-43172693	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546018023	chr14:43172755-43172756	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs17706018	chr14:43172782-43172783	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs180772130	chr14:43172783-43172784	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs186157772	chr14:43172788-43172789	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs371253346	chr14:43172795-43172796	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs74047787	chr14:43172822-43172823	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs3833676	chr14:43172824-43172825	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs576064168	chr14:43172829-43172830	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs546131619	chr14:43172951-43172952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544060885	chr14:43172979-43172980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141317667	chr14:43173006-43173007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146974808	chr14:43173026-43173027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138218163	chr14:43173055-43173056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184026103	chr14:43173064-43173065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527478574	chr14:43173141-43173142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1698536	chr14:43173158-43173159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186558574	chr14:43173173-43173174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551750219	chr14:43173200-43173201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570081258	chr14:43173206-43173207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531019329	chr14:43173269-43173270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190469166	chr14:43173272-43173273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183045769	chr14:43173304-43173305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1712714	chr14:43173306-43173307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs553689988	chr14:43173326-43173327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187059662	chr14:43173368-43173369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43172000-43173000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:43173000-43175400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:43175400-43175600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:43175400-43175800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:43184400-43184600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr14:43184400-43185000	Enhancers	NHEK	skin
7	chr14:43184400-43185400	Enhancers	HUVEC	blood vessel
8	chr14:43184600-43185000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:43203800-43204600	Enhancers	HUVEC	blood vessel

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