Variant report

Variant	nsv901701
Chromosome Location	chr14:41571738-41668334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-1	chr14:41610037-41610251	NR_109758

Extended variants
information (count: 1381 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1381 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1954451	chr14:41571738-41571739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71409977	chr14:41571771-41571772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182176446	chr14:41571804-41571805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568988336	chr14:41571826-41571827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536483808	chr14:41571877-41571878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559416939	chr14:41571886-41571887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548346036	chr14:41571889-41571890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114406004	chr14:41571976-41571977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74319837	chr14:41571982-41571983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2415659	chr14:41572039-41572040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187292149	chr14:41572155-41572156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577612738	chr14:41572199-41572200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538231774	chr14:41572223-41572224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141907935	chr14:41572285-41572286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73296669	chr14:41572330-41572331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575379712	chr14:41572344-41572345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191842977	chr14:41572365-41572366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147677074	chr14:41572385-41572386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs8003326	chr14:41572459-41572460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558699502	chr14:41572462-41572463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551274284	chr14:41572485-41572486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113436987	chr14:41572493-41572494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112533998	chr14:41572528-41572529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184067903	chr14:41572544-41572545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571095421	chr14:41572580-41572581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544184828	chr14:41572641-41572642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143302059	chr14:41572664-41572665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188679595	chr14:41572683-41572684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112366927	chr14:41572748-41572749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185853095	chr14:41572754-41572755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527876531	chr14:41572772-41572773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148315658	chr14:41572774-41572775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141738646	chr14:41572775-41572776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8004394	chr14:41572790-41572791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373497362	chr14:41572832-41572833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150127382	chr14:41572884-41572885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556971585	chr14:41572896-41572897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79044846	chr14:41572902-41572903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565735461	chr14:41572906-41572907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117869281	chr14:41572951-41572952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11849244	chr14:41572968-41572969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573042300	chr14:41573031-41573032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200868738	chr14:41573034-41573035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113075898	chr14:41573037-41573038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34702371	chr14:41573038-41573039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540032834	chr14:41573077-41573078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190373081	chr14:41573094-41573095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12589208	chr14:41573132-41573133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75296960	chr14:41573138-41573139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180946936	chr14:41573146-41573147	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41569200-41572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:41569200-41573800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:41579600-41592400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:41585600-41589400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:41589400-41590000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:41590000-41592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:41592400-41593600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:41592600-41593000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:41595600-41596000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:41596000-41599000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:41605200-41606000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:41605400-41606200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:41605400-41606400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr14:41605600-41606000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr14:41605600-41606200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:41606000-41606200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr14:41606200-41615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:41611200-41613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:41611400-41613800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:41613600-41613800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:41613600-41614000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:41613600-41614800	Enhancers	HMEC	breast
23	chr14:41613600-41615200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:41613800-41614400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:41613800-41615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:41614400-41616400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:41615000-41615200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:41615800-41616000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:41623000-41625400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:41623400-41623800	Weak transcription	Pancreas	Pancrea
31	chr14:41623400-41624000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr14:41623400-41626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:41623800-41624000	ZNF genes & repeats	Pancreas	Pancrea
34	chr14:41640200-41640600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:41640200-41640800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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