Variant report

Variant	nsv901700
Chromosome Location	chr14:41565756-41610224
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: 1216 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1216 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2185992	chr14:41565756-41565757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576133635	chr14:41565766-41565767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116227154	chr14:41565772-41565773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571561041	chr14:41565785-41565786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527444861	chr14:41565814-41565815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201708569	chr14:41565885-41565886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200065885	chr14:41565926-41565927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142729751	chr14:41565944-41565945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115591115	chr14:41565959-41565960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190659566	chr14:41565963-41565964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150583680	chr14:41565970-41565971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28506005	chr14:41565984-41565985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566766297	chr14:41565985-41565986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534125018	chr14:41566001-41566002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182878416	chr14:41566003-41566004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577452041	chr14:41566040-41566041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538274098	chr14:41566043-41566044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556891218	chr14:41566072-41566073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12433878	chr14:41566089-41566090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199657612	chr14:41566099-41566100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397765524	chr14:41566105-41566106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575247327	chr14:41566108-41566109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542700516	chr14:41566205-41566206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560954615	chr14:41566209-41566210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373654434	chr14:41566237-41566238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540405934	chr14:41566244-41566245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115096871	chr14:41566283-41566284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528214912	chr14:41566299-41566300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527537545	chr14:41566394-41566395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547584098	chr14:41566419-41566420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187890517	chr14:41566434-41566435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34041094	chr14:41566440-41566441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562860997	chr14:41566479-41566480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139473094	chr14:41566521-41566522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548323416	chr14:41566557-41566558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115723020	chr14:41566601-41566602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547737751	chr14:41566667-41566668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534159157	chr14:41566684-41566685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367623335	chr14:41566763-41566764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199956735	chr14:41566795-41566796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193268745	chr14:41566830-41566831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535146910	chr14:41566841-41566842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553586219	chr14:41566843-41566844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12895228	chr14:41566856-41566857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77937036	chr14:41566885-41566886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8020780	chr14:41566957-41566958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187873576	chr14:41567012-41567013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570717367	chr14:41567067-41567068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72676099	chr14:41567105-41567106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192163257	chr14:41567120-41567121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41558000-41568400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:41562200-41567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:41562800-41567200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:41566800-41567200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:41567200-41567400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:41567200-41569000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:41568400-41569200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:41568600-41569200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:41568600-41569200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:41569000-41569200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:41569200-41572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:41569200-41573800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:41579600-41592400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:41585600-41589400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:41589400-41590000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:41590000-41592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:41592400-41593600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:41592600-41593000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:41595600-41596000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:41596000-41599000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:41605200-41606000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:41605400-41606200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:41605400-41606400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:41605600-41606000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr14:41605600-41606200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:41606000-41606200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:41606200-41615800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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