Variant report

Variant	nsv901699
Chromosome Location	chr14:41540685-41674903
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	chr14:41488666..41490358-chr14:41674438..41676053,2	K562	blood:

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

Extended variants
information (count: 2160 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2160 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149617887	chr14:41551666-41551667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17111444	chr14:41551709-41551710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538935216	chr14:41551748-41551749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181655986	chr14:41551764-41551765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186821448	chr14:41551780-41551781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143318499	chr14:41551785-41551786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191725663	chr14:41551798-41551799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73296640	chr14:41551801-41551802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139582872	chr14:41551806-41551807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77665305	chr14:41551882-41551883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188893779	chr14:41551962-41551963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576984151	chr14:41551983-41551984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548166899	chr14:41551999-41552000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544392443	chr14:41552022-41552023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138963330	chr14:41552035-41552036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369406109	chr14:41552100-41552101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542640246	chr14:41552124-41552125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560687145	chr14:41552129-41552130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370160116	chr14:41552130-41552131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190033174	chr14:41552188-41552189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546329819	chr14:41552251-41552252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565081603	chr14:41552265-41552266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532387297	chr14:41552359-41552360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550790795	chr14:41552378-41552379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4904239	chr14:41552380-41552381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536519091	chr14:41552414-41552415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369456904	chr14:41552569-41552570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548588633	chr14:41552584-41552585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555853838	chr14:41552623-41552624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572605170	chr14:41552624-41552625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34270383	chr14:41552660-41552661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566583890	chr14:41552680-41552681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12432618	chr14:41552698-41552699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201942321	chr14:41552700-41552701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534310212	chr14:41552766-41552767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558827265	chr14:41552816-41552817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576923822	chr14:41552832-41552833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538076297	chr14:41552864-41552865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10133954	chr14:41552916-41552917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142289801	chr14:41552970-41552971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146388813	chr14:41553014-41553015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12890181	chr14:41553058-41553059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572705849	chr14:41553086-41553087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552939784	chr14:41553088-41553089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540212445	chr14:41553135-41553136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182187237	chr14:41553155-41553156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532231934	chr14:41553187-41553188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544436270	chr14:41553189-41553190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562646936	chr14:41553207-41553208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10136381	chr14:41553273-41553274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41551600-41551800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:41551800-41557000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:41556800-41557000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:41557000-41557200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:41557000-41558000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:41558000-41568400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:41562200-41567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:41562800-41567200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:41566800-41567200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:41567200-41567400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:41567200-41569000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:41568400-41569200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:41568600-41569200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:41568600-41569200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:41569000-41569200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:41569200-41572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:41569200-41573800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:41579600-41592400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:41585600-41589400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:41589400-41590000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:41590000-41592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:41592400-41593600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:41592600-41593000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:41595600-41596000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:41596000-41599000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:41605200-41606000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:41605400-41606200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:41605400-41606400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:41605600-41606000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr14:41605600-41606200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:41606000-41606200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr14:41606200-41615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:41611200-41613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:41611400-41613800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:41613600-41613800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:41613600-41614000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:41613600-41614800	Enhancers	HMEC	breast
38	chr14:41613600-41615200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:41613800-41614400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:41613800-41615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:41614400-41616400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:41615000-41615200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:41615800-41616000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr14:41623000-41625400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:41623400-41623800	Weak transcription	Pancreas	Pancrea
46	chr14:41623400-41624000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr14:41623400-41626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:41623800-41624000	ZNF genes & repeats	Pancreas	Pancrea
49	chr14:41640200-41640600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:41640200-41640800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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