Variant report

Variant	nsv1053254
Chromosome Location	chr14:41436749-41677315
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:2)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

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

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-1	chr14:41444546-41445082	ENSG00000251363
2	lnc-LRFN5-1	chr14:41444546-41445068	ENSG00000251363
3	lnc-LRFN5-1	chr14:41444546-41445070	XLOC_010813
4	lnc-LRFN5-1	chr14:41494725-41494994	NR_109757
5	lnc-LRFN5-1	chr14:41443545-41443595	XLOC_010813
6	lnc-LRFN5-1	chr14:41443545-41443814	XLOC_010813
7	lnc-LRFN5-1	chr14:41610037-41610251	NR_109758
8	lnc-LRFN5-1	chr14:41443545-41443595	NR_109758
9	lnc-LRFN5-1	chr14:41443545-41443595	ENSG00000251363
10	lnc-LRFN5-1	chr14:41443545-41443595	ENSG00000251363
11	lnc-LRFN5-1	chr14:41443545-41443595	NR_109757

No data

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

Extended variants
information (count: 4269 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:4269 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532786681	chr14:41436753-41436754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150357095	chr14:41436768-41436769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373127414	chr14:41436770-41436771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190712880	chr14:41436785-41436786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563079736	chr14:41436868-41436869	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530600792	chr14:41436872-41436873	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548955414	chr14:41436881-41436882	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538218616	chr14:41436908-41436909	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535370255	chr14:41436936-41436937	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546893650	chr14:41436941-41436942	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34469201	chr14:41436948-41436949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571631218	chr14:41436969-41436970	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1176973	chr14:41437007-41437008	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551072594	chr14:41437035-41437036	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1176974	chr14:41437036-41437037	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536843086	chr14:41437042-41437043	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554822992	chr14:41437089-41437090	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182854426	chr14:41437110-41437111	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186460405	chr14:41437177-41437178	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545596949	chr14:41437184-41437185	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558838431	chr14:41437221-41437222	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577202256	chr14:41437223-41437224	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191030824	chr14:41437224-41437225	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72673750	chr14:41437281-41437282	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs36047495	chr14:41437337-41437338	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574565154	chr14:41437373-41437374	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542717926	chr14:41437379-41437380	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10143161	chr14:41437380-41437381	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528302557	chr14:41437397-41437398	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375250344	chr14:41437413-41437414	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116497111	chr14:41437427-41437428	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117117949	chr14:41437447-41437448	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532547685	chr14:41437454-41437455	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551035623	chr14:41437473-41437474	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569282531	chr14:41437476-41437477	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536300842	chr14:41437510-41437511	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548686159	chr14:41437536-41437537	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375308264	chr14:41437555-41437556	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566917868	chr14:41437659-41437660	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1176975	chr14:41437680-41437681	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187555368	chr14:41437682-41437683	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577167420	chr14:41437708-41437709	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138190813	chr14:41437709-41437710	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114841741	chr14:41437814-41437815	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577082401	chr14:41437817-41437818	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575216059	chr14:41437828-41437829	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1176976	chr14:41437842-41437843	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561069814	chr14:41437873-41437874	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12882917	chr14:41437912-41437913	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs143772912	chr14:41437956-41437957	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41429000-41439200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:41429800-41443400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:41430000-41445200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:41430000-41456000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:41430200-41437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:41432000-41436800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:41432000-41437200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:41432200-41436800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:41434800-41443400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:41435800-41437200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:41435800-41437600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:41436200-41445800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:41436800-41438200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:41436800-41441200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:41437200-41437800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:41437200-41437800	Enhancers	Brain Substantia Nigra	brain
17	chr14:41437200-41438000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:41437200-41439600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:41437600-41439000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:41437800-41438000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:41438000-41439200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:41438000-41442200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:41438200-41443600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:41439000-41443200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:41439200-41441200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:41439600-41442000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:41441200-41442000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:41441200-41446200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:41442000-41442200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:41442000-41446000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:41442200-41443400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:41443200-41444800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:41443400-41443600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr14:41443400-41443800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:41443400-41443800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:41443400-41444600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:41443600-41444000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:41443600-41445000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:41443800-41444400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:41443800-41445800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:41444000-41444600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:41444400-41446200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:41444600-41448200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:41444600-41473600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:41444800-41452800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:41446000-41447600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:41446200-41469400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:41446200-41473600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:41450600-41450800	Active TSS	Fetal Heart	heart
50	chr14:41450800-41456400	Weak transcription	Fetal Heart	heart

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