Variant report

Variant	nsv456212
Chromosome Location	chr14:39957437-40096888
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:4)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39901555..39903705-chr14:40028959..40031406,2	MCF-7	breast:
2	chr14:39976243..39977763-chr17:41466303..41467864,2	K562	blood:
3	chr14:39976243..39977743-chr17:41464211..41467185,2	MCF-7	breast:
4	chr11:62607650..62610625-chr14:39977763..39979263,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTAGE5-1	chr14:39961459-39961950	XLOC_010811
2	lnc-CTAGE5-1	chr14:39961459-39962715	XLOC_010811
3	lnc-CTAGE5-1	chr14:39961459-39961760	ENSG00000258526
4	lnc-CTAGE5-1	chr14:39982821-39982984	ENSG00000258526
5	lnc-CTAGE5-1	chr14:39982821-39982983	ENSG00000258526
6	lnc-CTAGE5-1	chr14:39961459-39961760	ENSG00000258526
7	lnc-CTAGE5-1	chr14:39961459-39962715	XLOC_010811
8	lnc-CTAGE5-1	chr14:39961459-39962715	XLOC_010811
9	lnc-CTAGE5-1	chr14:39961459-39961973	NONHSAT036548
10	lnc-CTAGE5-5	chr14:39957187-39959594	NONHSAT036547
11	lnc-CTAGE5-1	chr14:39961459-39961974	ENSG00000258526
12	lnc-CTAGE5-1	chr14:39962545-39962716	ENSG00000258526

No data

Variant related genes	Relation type
ENSG00000133316	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000165355	chromatin interactions

Extended variants
information (count: 2342 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2342 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1955726	chr14:39957437-39957438	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191186040	chr14:39957439-39957440	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs555611461	chr14:39957460-39957461	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs575656935	chr14:39957513-39957514	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs17109318	chr14:39957639-39957640	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs143748209	chr14:39957648-39957649	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs369593939	chr14:39957649-39957650	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs150502927	chr14:39957657-39957658	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs139452428	chr14:39957665-39957666	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs559996145	chr14:39957733-39957734	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs183443867	chr14:39957737-39957738	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs542576087	chr14:39957769-39957770	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs562467695	chr14:39957799-39957800	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs548115842	chr14:39957805-39957806	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs185655963	chr14:39957841-39957842	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs564709593	chr14:39957848-39957849	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs577787163	chr14:39957888-39957889	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs190762368	chr14:39957931-39957932	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs547345677	chr14:39957937-39957938	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs567152754	chr14:39957967-39957968	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs535495576	chr14:39957969-39957970	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs74726459	chr14:39957972-39957973	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs372587713	chr14:39957979-39957980	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs569263239	chr14:39957989-39957990	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs538378855	chr14:39958013-39958014	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs149676095	chr14:39958029-39958030	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs577447126	chr14:39958102-39958103	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs533723562	chr14:39958139-39958140	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs182965181	chr14:39958150-39958151	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs573852607	chr14:39958243-39958244	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs373717811	chr14:39958259-39958260	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs539564288	chr14:39958271-39958272	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs112411985	chr14:39958319-39958320	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs187991060	chr14:39958321-39958322	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs373169254	chr14:39958327-39958328	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs144491478	chr14:39958339-39958340	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs114989496	chr14:39958414-39958415	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs564952255	chr14:39958437-39958438	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs139250779	chr14:39958441-39958442	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs115453572	chr14:39958464-39958465	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs193221152	chr14:39958546-39958547	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs182618791	chr14:39958593-39958594	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs9788415	chr14:39958630-39958631	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs187692696	chr14:39958664-39958665	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs561339236	chr14:39958686-39958687	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs551496449	chr14:39958694-39958695	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs144351590	chr14:39958717-39958718	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs192307042	chr14:39958744-39958745	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs146609754	chr14:39958765-39958766	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs573864096	chr14:39958844-39958845	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Invasive pancreatic ductal carcinoma	16982739	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39952400-39958000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:39955400-39957800	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:39957200-39959200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:39957200-39959600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:39957400-39958600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:39957600-39958400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:39957600-39958400	Enhancers	Fetal Brain Female	brain
8	chr14:39957600-39958600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:39957600-39958800	Enhancers	Brain Germinal Matrix	brain
10	chr14:39957800-39958200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:39957800-39958200	Enhancers	Brain Hippocampus Middle	brain
12	chr14:39957800-39958400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:39958000-39958200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:39958000-39958200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:39958000-39958200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:39958000-39959400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:39958200-39960600	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:39958200-39964800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:39958200-39968600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:39958400-39960400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:39958400-39960400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:39958600-39960600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:39958800-39960600	Weak transcription	Brain Germinal Matrix	brain
24	chr14:39959200-39959600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:39959200-39960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:39959400-39959800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:39959400-39960600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:39959600-39960000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:39959600-39960600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:39959800-39960200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:39960000-39960400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:39960200-39960800	Enhancers	NH-A	brain
33	chr14:39960200-39961000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:39960200-39961600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr14:39960200-39961600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr14:39960200-39961800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr14:39960200-39962000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:39960400-39960600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:39960400-39960600	Enhancers	Osteobl	bone
40	chr14:39960400-39960800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:39960400-39960800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr14:39960400-39960800	Enhancers	Stomach Smooth Muscle	stomach
43	chr14:39960400-39961600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:39960400-39961600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr14:39960400-39961800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr14:39960400-39961800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:39960400-39961800	Enhancers	HSMM	muscle
48	chr14:39960400-39962000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:39960600-39960800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr14:39960600-39960800	Enhancers	Brain Substantia Nigra	brain

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