Variant report

Variant	nsv902127
Chromosome Location	chr14:83524701-83746190
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:82457970..82458550-chr14:83538022..83538739,2	MCF-7	breast:
2	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
3	chr14:82176321..82177178-chr14:83538011..83538873,2	MCF-7	breast:
4	chr14:82456729..82457343-chr14:83537985..83538492,2	MCF-7	breast:
5	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
6	chr14:83730856..83733310-chr14:83737352..83738858,2	K562	blood:
7	chr14:83730856..83733310-chr14:83737352..83738858,2	K562	blood:
8	chr14:83176409..83177253-chr14:83537916..83538885,7	MCF-7	breast:
9	chr14:83176300..83176864-chr14:83537974..83538513,2	MCF-7	breast:

No data

Extended variants
information (count: 3973 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:3973 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1888363	chr14:83524701-83524702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560962466	chr14:83524735-83524736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568513866	chr14:83524778-83524779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1888364	chr14:83524811-83524812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564993834	chr14:83524828-83524829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17679277	chr14:83524892-83524893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145030776	chr14:83524902-83524903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149059197	chr14:83524904-83524905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530445500	chr14:83524920-83524921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548784769	chr14:83524970-83524971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570123152	chr14:83524981-83524982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537655192	chr14:83525011-83525012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564251922	chr14:83525042-83525043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145898199	chr14:83525051-83525052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570966792	chr14:83525062-83525063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534696873	chr14:83525093-83525094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534400772	chr14:83525095-83525096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552980256	chr14:83525101-83525102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113198799	chr14:83525114-83525115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201969921	chr14:83525119-83525120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72629338	chr14:83525126-83525127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61982198	chr14:83525176-83525177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554867326	chr14:83525189-83525190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563630184	chr14:83527424-83527425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528009115	chr14:83527453-83527454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192567161	chr14:83527476-83527477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111482505	chr14:83527507-83527508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386779378	chr14:83527514-83527515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10148010	chr14:83527516-83527517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10148015	chr14:83527523-83527524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377509799	chr14:83527525-83527526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139474746	chr14:83527543-83527544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142783908	chr14:83527571-83527572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549481319	chr14:83527599-83527600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113418513	chr14:83527626-83527627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144575297	chr14:83527629-83527630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539041991	chr14:83527646-83527647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116704648	chr14:83527697-83527698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112359658	chr14:83527718-83527719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190094098	chr14:83527735-83527736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181758199	chr14:83527748-83527749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555807072	chr14:83527777-83527778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10149865	chr14:83533025-83533026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562053759	chr14:83533094-83533095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569201149	chr14:83533109-83533110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529280760	chr14:83533119-83533120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550746475	chr14:83533124-83533125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17117913	chr14:83533130-83533131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147787341	chr14:83533161-83533162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188213366	chr14:83533164-83533165	Enhancers	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
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
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
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83524400-83524800	Enhancers	Fetal Heart	heart
2	chr14:83524400-83525200	Enhancers	Gastric	stomach
3	chr14:83527400-83527800	Enhancers	Pancreas	Pancrea
4	chr14:83533000-83533400	Enhancers	Fetal Heart	heart
5	chr14:83545400-83545800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:83549800-83550200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:83550200-83551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:83551000-83552800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:83551200-83551600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:83551200-83552400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:83551600-83552000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:83551600-83553000	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:83551600-83553200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr14:83551800-83552400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:83551800-83552600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:83552000-83552600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr14:83552000-83552800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:83552000-83553000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:83552200-83552600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:83558000-83558400	Enhancers	Fetal Lung	lung
21	chr14:83558200-83558400	Enhancers	Fetal Heart	heart
22	chr14:83558400-83558600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:83558400-83558600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr14:83558400-83559000	Active TSS	Right Ventricle	heart
25	chr14:83558600-83558800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:83558600-83559000	Active TSS	Right Atrium	heart
27	chr14:83558600-83559200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:83562200-83563200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:83562600-83563000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:83565200-83565400	Enhancers	Aorta	Aorta
31	chr14:83565400-83567200	Weak transcription	Aorta	Aorta
32	chr14:83567200-83567400	Enhancers	Aorta	Aorta
33	chr14:83573600-83575000	Enhancers	Brain Germinal Matrix	brain
34	chr14:83583400-83583800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:83590800-83592200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:83591000-83591800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:83591000-83592000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr14:83591200-83591400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:83591200-83591800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:83591200-83592000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr14:83591200-83592400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr14:83591200-83593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:83591400-83591800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:83591400-83593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:83592600-83592800	Enhancers	Fetal Brain Male	brain
46	chr14:83592800-83595400	Weak transcription	Fetal Brain Male	brain
47	chr14:83593600-83593800	Enhancers	Fetal Brain Female	brain
48	chr14:83593600-83599000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:83593800-83594400	Enhancers	Fetal Kidney	kidney
50	chr14:83593800-83594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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