Variant report

Variant	nsv901704
Chromosome Location	chr14:41587669-41674903
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: 1053 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1053 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6572064	chr14:41587669-41587670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554446489	chr14:41587672-41587673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572673404	chr14:41587684-41587685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs66882511	chr14:41587696-41587697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201900871	chr14:41587701-41587702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187175181	chr14:41587729-41587730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544167100	chr14:41587763-41587764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562448981	chr14:41587764-41587765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558787584	chr14:41587775-41587776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376688877	chr14:41587824-41587825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572327086	chr14:41587841-41587842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541350601	chr14:41587848-41587849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559964163	chr14:41587896-41587897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368757425	chr14:41587904-41587905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527465924	chr14:41587948-41587949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192274738	chr14:41587950-41587951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570695778	chr14:41588003-41588004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77767791	chr14:41588006-41588007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs8015506	chr14:41588023-41588024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2154102	chr14:41588037-41588038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs370612889	chr14:41588047-41588048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574763428	chr14:41588057-41588058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374043934	chr14:41588059-41588060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113679248	chr14:41588076-41588077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535999170	chr14:41588079-41588080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369989486	chr14:41588080-41588081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184479724	chr14:41588113-41588114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572712137	chr14:41588121-41588122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540005848	chr14:41588128-41588129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188938523	chr14:41588129-41588130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73298983	chr14:41588157-41588158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182134235	chr14:41588167-41588168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2154101	chr14:41588180-41588181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143685320	chr14:41588230-41588231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546615264	chr14:41588265-41588266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112977503	chr14:41588311-41588312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112251473	chr14:41588336-41588337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527502813	chr14:41588339-41588340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2185988	chr14:41588355-41588356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564232702	chr14:41588383-41588384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559537534	chr14:41588402-41588403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545152040	chr14:41588411-41588412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71409979	chr14:41588497-41588498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185519454	chr14:41588516-41588517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535834273	chr14:41588563-41588564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189334314	chr14:41588586-41588587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548842598	chr14:41588607-41588608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568693067	chr14:41588687-41588688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10149168	chr14:41588689-41588690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549557326	chr14:41588787-41588788	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41579600-41592400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41585600-41589400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:41589400-41590000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:41590000-41592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:41592400-41593600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:41592600-41593000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:41595600-41596000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:41596000-41599000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:41605200-41606000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:41605400-41606200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:41605400-41606400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:41605600-41606000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr14:41605600-41606200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr14:41606000-41606200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:41606200-41615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:41611200-41613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:41611400-41613800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:41613600-41613800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:41613600-41614000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:41613600-41614800	Enhancers	HMEC	breast
21	chr14:41613600-41615200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:41613800-41614400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:41613800-41615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:41614400-41616400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:41615000-41615200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:41615800-41616000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr14:41623000-41625400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:41623400-41623800	Weak transcription	Pancreas	Pancrea
29	chr14:41623400-41624000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr14:41623400-41626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:41623800-41624000	ZNF genes & repeats	Pancreas	Pancrea
32	chr14:41640200-41640600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:41640200-41640800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:41669600-41669800	Bivalent Enhancer	Left Ventricle	heart
35	chr14:41673000-41673200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:41674400-41674600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr14:41674400-41675000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:41674400-41675000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:41674400-41675200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
40	chr14:41674600-41674800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr14:41674800-41675000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
42	chr14:41674800-41675200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr14:41674800-41675400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr14:41674800-41675600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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