Variant report

Variant	nsv523330
Chromosome Location	chr14:41432350-41605556
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:1)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:41488666..41490358-chr14:41674438..41676053,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-1	chr14:41443545-41443595	ENSG00000251363
2	lnc-LRFN5-1	chr14:41444546-41445068	ENSG00000251363
3	lnc-LRFN5-1	chr14:41444546-41445070	XLOC_010813
4	lnc-LRFN5-1	chr14:41443545-41443595	NR_109758
5	lnc-LRFN5-1	chr14:41443545-41443814	XLOC_010813
6	lnc-LRFN5-1	chr14:41494725-41494994	NR_109757
7	lnc-LRFN5-1	chr14:41443545-41443595	NR_109757
8	lnc-LRFN5-1	chr14:41443545-41443595	ENSG00000251363
9	lnc-LRFN5-1	chr14:41444546-41445082	ENSG00000251363
10	lnc-LRFN5-1	chr14:41443545-41443595	XLOC_010813

No data

Variant related genes	Relation type
KLHL28	miRNA target sites
ARID4B	miRNA target sites
SLC25A22	miRNA target sites

Extended variants
information (count: 3678 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3678 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12147922	chr14:41432350-41432351	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377159636	chr14:41432359-41432360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186602352	chr14:41432402-41432403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143396357	chr14:41432456-41432457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540830217	chr14:41432514-41432515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552357067	chr14:41432550-41432551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570950621	chr14:41432606-41432607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72673746	chr14:41432623-41432624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550002306	chr14:41432644-41432645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370382924	chr14:41432647-41432648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375622907	chr14:41432662-41432663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568324669	chr14:41432674-41432675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528223319	chr14:41432678-41432679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs935852	chr14:41432683-41432684	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554468907	chr14:41432706-41432707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75256452	chr14:41432712-41432713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533817563	chr14:41432734-41432735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558349214	chr14:41432955-41432956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183841236	chr14:41432995-41432996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544410866	chr14:41433010-41433011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556353409	chr14:41433020-41433021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543386626	chr14:41433055-41433056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541732260	chr14:41433067-41433068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111236545	chr14:41433283-41433284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1669565	chr14:41433285-41433286	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200432139	chr14:41433289-41433290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1176968	chr14:41433306-41433307	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564229602	chr14:41433398-41433399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531650488	chr14:41433399-41433400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566185588	chr14:41433426-41433427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577489568	chr14:41433434-41433435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186654672	chr14:41433495-41433496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191169472	chr14:41433505-41433506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11310114	chr14:41433520-41433521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529461633	chr14:41433542-41433543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547755801	chr14:41433580-41433581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140389965	chr14:41433636-41433637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533551497	chr14:41433663-41433664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558565195	chr14:41433690-41433691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8005276	chr14:41433699-41433700	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372479930	chr14:41433715-41433716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377522064	chr14:41433739-41433740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183414504	chr14:41433740-41433741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556318504	chr14:41433772-41433773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35789986	chr14:41433810-41433811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370945769	chr14:41433838-41433839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548819604	chr14:41433905-41433906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574652792	chr14:41433920-41433921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142777901	chr14:41433936-41433937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553777394	chr14:41433960-41433961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41428600-41435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:41429000-41432600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr14:41429000-41439200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:41429800-41434800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:41429800-41443400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:41430000-41445200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:41430000-41456000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:41430200-41437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:41430400-41432800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:41431800-41434800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:41432000-41435800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:41432000-41436800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:41432000-41437200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:41432200-41436800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:41432600-41435800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:41432800-41434200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:41434200-41435200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:41434800-41443400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:41435200-41436200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:41435800-41437200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:41435800-41437600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:41436200-41445800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:41436800-41438200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:41436800-41441200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:41437200-41437800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:41437200-41437800	Enhancers	Brain Substantia Nigra	brain
27	chr14:41437200-41438000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:41437200-41439600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:41437600-41439000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:41437800-41438000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:41438000-41439200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:41438000-41442200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:41438200-41443600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:41439000-41443200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:41439200-41441200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:41439600-41442000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:41441200-41442000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:41441200-41446200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:41442000-41442200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:41442000-41446000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:41442200-41443400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:41443200-41444800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:41443400-41443600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr14:41443400-41443800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:41443400-41443800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:41443400-41444600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:41443600-41444000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:41443600-41445000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:41443800-41444400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:41443800-41445800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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