Variant report

Variant	nsv1039554
Chromosome Location	chr14:81113167-81156335
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81128064..81130870-chr14:81132891..81135681,3	MCF-7	breast:
2	chr14:81120693..81123298-chr14:81125309..81128150,2	MCF-7	breast:
3	chr14:81124495..81126695-chr14:81127344..81130125,3	MCF-7	breast:
4	chr14:81128064..81130870-chr14:81132891..81135681,3	MCF-7	breast:
5	chr14:81120693..81123298-chr14:81125309..81128150,2	MCF-7	breast:
6	chr14:81124495..81126695-chr14:81127344..81130125,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIO2-7	chr14:81142783-81143873	l_1018_chr14:81141451-81155425_testes
2	lnc-DIO2-7	chr14:81154768-81155425	l_1018_chr14:81141451-81155425_testes
3	lnc-DIO2-7	chr14:81141452-81141651	l_1018_chr14:81141451-81155425_testes

No data

Extended variants
information (count: 1667 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1667 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149305118	chr14:81113215-81113216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146232932	chr14:81113248-81113249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569881178	chr14:81113279-81113280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372341494	chr14:81113338-81113339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371878057	chr14:81113339-81113340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71103873	chr14:81113356-81113357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553711134	chr14:81113357-81113358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578237608	chr14:81113359-81113360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545041795	chr14:81113361-81113362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200495600	chr14:81113362-81113363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185401880	chr14:81113363-81113364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57315643	chr14:81113369-81113370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58561304	chr14:81113371-81113372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59434396	chr14:81113378-81113379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76162428	chr14:81113385-81113386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60895994	chr14:81113406-81113407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71430712	chr14:81113426-81113427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71430713	chr14:81113437-81113438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189025911	chr14:81113450-81113451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10145891	chr14:81113452-81113453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151015088	chr14:81113465-81113466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369604001	chr14:81113467-81113468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60548487	chr14:81113468-81113469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34519195	chr14:81113469-81113470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58424962	chr14:81113470-81113471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558841962	chr14:81113560-81113561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577166524	chr14:81113639-81113640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79548659	chr14:81113653-81113654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563781683	chr14:81113718-81113719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112093167	chr14:81113735-81113736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574547984	chr14:81113764-81113765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138147533	chr14:81113776-81113777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8013202	chr14:81113833-81113834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs58902662	chr14:81113872-81113873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576728863	chr14:81113935-81113936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181775138	chr14:81113941-81113942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529397145	chr14:81113956-81113957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564838769	chr14:81114000-81114001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528790217	chr14:81114018-81114019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142619117	chr14:81114029-81114030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186298084	chr14:81114052-81114053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543010866	chr14:81114113-81114114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529780620	chr14:81114175-81114176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548340127	chr14:81114176-81114177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569845323	chr14:81114230-81114231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537290854	chr14:81114265-81114266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552181196	chr14:81114274-81114275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115424453	chr14:81114300-81114301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553306550	chr14:81114335-81114336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574511130	chr14:81114348-81114349	Weak 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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81106200-81135400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:81108200-81145800	Weak transcription	Fetal Thymus	thymus
3	chr14:81108600-81116800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:81110600-81124600	Weak transcription	Dnd41	blood
5	chr14:81110800-81124400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:81120200-81120400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:81120400-81120600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:81120400-81120600	Weak transcription	NH-A	brain
9	chr14:81120400-81121200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:81120600-81120800	Enhancers	NH-A	brain
11	chr14:81120800-81130600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:81121200-81122600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:81121800-81122400	Enhancers	HUVEC	blood vessel
14	chr14:81122600-81129400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:81123600-81123800	Enhancers	Brain Germinal Matrix	brain
16	chr14:81123800-81124400	Weak transcription	Brain Germinal Matrix	brain
17	chr14:81123800-81124800	Enhancers	Brain Hippocampus Middle	brain
18	chr14:81124000-81125200	Enhancers	Brain Angular Gyrus	brain
19	chr14:81124200-81126000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:81124200-81126200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:81124200-81126200	Enhancers	Brain Cingulate Gyrus	brain
22	chr14:81124200-81126400	Enhancers	HepG2	liver
23	chr14:81124400-81124800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr14:81124400-81125400	Enhancers	Brain Anterior Caudate	brain
25	chr14:81124400-81125600	Enhancers	Brain Germinal Matrix	brain
26	chr14:81124400-81126000	Enhancers	Brain Substantia Nigra	brain
27	chr14:81124600-81125400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:81124600-81125800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:81124600-81133000	Enhancers	Dnd41	blood
30	chr14:81124800-81125000	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr14:81124800-81125000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr14:81125000-81125200	Enhancers	Brain Hippocampus Middle	brain
33	chr14:81125000-81125200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr14:81125000-81125400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:81125000-81125400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:81125200-81125400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr14:81125200-81125600	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr14:81125400-81125800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:81125400-81129600	Weak transcription	Brain Anterior Caudate	brain
40	chr14:81125600-81125800	Enhancers	Brain Hippocampus Middle	brain
41	chr14:81125600-81127400	Weak transcription	Brain Germinal Matrix	brain
42	chr14:81125800-81129400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:81125800-81129800	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:81125800-81129800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:81126000-81128200	Weak transcription	Brain Substantia Nigra	brain
46	chr14:81126000-81129400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr14:81126400-81130600	Weak transcription	HepG2	liver
48	chr14:81127400-81127800	Enhancers	Brain Germinal Matrix	brain
49	chr14:81127800-81129400	Weak transcription	Brain Germinal Matrix	brain
50	chr14:81128200-81128400	Enhancers	Brain Substantia Nigra	brain

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