Variant report

Variant	nsv521761
Chromosome Location	chr14:68996466-69001320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68998490..69000612-chr14:69028274..69029938,2	MCF-7	breast:
2	chr14:69000957..69002671-chr14:69010193..69012853,2	MCF-7	breast:
3	chr14:68995172..68997333-chr14:69028182..69030145,2	MCF-7	breast:
4	chr14:68772101..68775016-chr14:68999200..69001646,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182185	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11621276	chr14:68996466-68996467	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9323513	chr14:68996491-68996492	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572354431	chr14:68996506-68996507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs9323514	chr14:68996564-68996565	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs533913605	chr14:68996578-68996579	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111779709	chr14:68996660-68996661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs548063487	chr14:68996665-68996666	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564431478	chr14:68996679-68996680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs559736925	chr14:68996701-68996702	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs75941876	chr14:68996731-68996732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs190986761	chr14:68996759-68996760	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570583360	chr14:68996812-68996813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543589423	chr14:68996843-68996844	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs114071220	chr14:68996845-68996846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs139122533	chr14:68996854-68996855	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12887124	chr14:68996976-68996977	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143651588	chr14:68996994-68996995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200735497	chr14:68997003-68997004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10133623	chr14:68997007-68997008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10133625	chr14:68997008-68997009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs118040061	chr14:68997009-68997010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572209500	chr14:68997010-68997011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75359642	chr14:68997016-68997017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140984562	chr14:68997036-68997037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35796983	chr14:68997051-68997052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182755583	chr14:68997058-68997059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146655597	chr14:68997081-68997082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139220133	chr14:68997090-68997091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35454756	chr14:68997164-68997165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150267307	chr14:68997185-68997186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60364607	chr14:68997186-68997187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374951883	chr14:68997199-68997200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376119321	chr14:68997207-68997208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574571418	chr14:68997226-68997227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555385084	chr14:68997248-68997249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141788767	chr14:68997267-68997268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11158749	chr14:68997296-68997297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs78149040	chr14:68997297-68997298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533430048	chr14:68997344-68997345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545632019	chr14:68997388-68997389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10134240	chr14:68997389-68997390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147105411	chr14:68997392-68997393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549900116	chr14:68997402-68997403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200528706	chr14:68997420-68997421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568004739	chr14:68997501-68997502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528895000	chr14:68997509-68997510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34496020	chr14:68997571-68997572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35630647	chr14:68997575-68997576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9323515	chr14:68997577-68997578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs56054401	chr14:68997614-68997615	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68993600-68996600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:68994400-69001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:68995000-69001200	Weak transcription	HSMMtube	muscle
4	chr14:68995600-68997000	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr14:68995800-68996600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:68996200-69002600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:68996200-69007800	Weak transcription	Stomach Mucosa	stomach
8	chr14:68997600-68997800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:68997600-69001200	Weak transcription	HSMM	muscle
10	chr14:68998200-69002200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:68998400-68998600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:68998600-68998800	ZNF genes & repeats	HMEC	breast
13	chr14:68998800-68999200	Weak transcription	HMEC	breast
14	chr14:68998800-68999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:68999000-68999200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:68999200-68999400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:68999200-68999400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:68999200-68999400	Enhancers	HMEC	breast
19	chr14:68999200-68999600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:68999400-69000000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:68999400-69001200	Weak transcription	HMEC	breast
22	chr14:68999600-69000800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:69000000-69000200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:69000000-69002400	Enhancers	NHDF-Ad	bronchial
25	chr14:69000000-69003000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:69000200-69000400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:69000400-69001200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:69000400-69002000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:69000800-69002600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr14:69001200-69001400	Enhancers	HSMM	muscle
31	chr14:69001200-69001400	Enhancers	HSMMtube	muscle
32	chr14:69001200-69003600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:69001200-69003600	Enhancers	HMEC	breast

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