Variant report

Variant	nsv974355
Chromosome Location	chr14:81705202-81712801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81682255..81691444-chr14:81709014..81722196,43	MCF-7	breast:
2	chr14:81685898..81688626-chr14:81711867..81715225,3	K562	blood:
3	chr14:81698086..81700406-chr14:81705165..81706994,2	K562	blood:
4	chr14:81683519..81693455-chr14:81706363..81723125,33	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	chromatin interactions

Extended variants
information (count: 303 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548305251	chr14:81705215-81705216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs55654133	chr14:81705354-81705355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375133864	chr14:81705426-81705427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374435581	chr14:81705429-81705430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564801172	chr14:81705430-81705431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112626522	chr14:81705438-81705439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570299623	chr14:81705526-81705527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538392587	chr14:81705575-81705576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537354048	chr14:81705584-81705585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556897272	chr14:81705611-81705612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558687807	chr14:81705612-81705613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183038178	chr14:81705615-81705616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534935918	chr14:81705633-81705634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553809016	chr14:81705634-81705635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572080803	chr14:81705676-81705677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532237830	chr14:81705689-81705690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371964938	chr14:81705691-81705692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542576205	chr14:81705734-81705735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372265830	chr14:81705741-81705742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576362989	chr14:81705752-81705753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187404368	chr14:81705761-81705762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193207894	chr14:81705783-81705784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374101902	chr14:81705792-81705793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149351378	chr14:81705820-81705821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201686401	chr14:81705845-81705846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547309340	chr14:81705846-81705847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536508839	chr14:81705855-81705856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530156387	chr14:81705882-81705883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548519530	chr14:81705885-81705886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114818659	chr14:81705921-81705922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376407469	chr14:81706028-81706029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537091383	chr14:81706058-81706059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111392593	chr14:81706063-81706064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369675239	chr14:81706106-81706107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373709554	chr14:81706113-81706114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570838130	chr14:81706168-81706169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1957549	chr14:81706179-81706180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553307686	chr14:81706186-81706187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139235876	chr14:81706203-81706204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572081227	chr14:81706247-81706248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535973845	chr14:81706251-81706252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201403514	chr14:81706257-81706258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78848712	chr14:81706258-81706259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200894175	chr14:81706259-81706260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76663231	chr14:81706261-81706262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554689384	chr14:81706328-81706329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576103422	chr14:81706439-81706440	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543469591	chr14:81706459-81706460	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs73346388	chr14:81706516-81706517	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533990769	chr14:81706528-81706529	Enhancers	Chromatin interactive region	1 gene(s)	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81704400-81705400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:81705400-81706400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:81706400-81706600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:81711400-81712600	Enhancers	HSMM	muscle
5	chr14:81711600-81722000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:81711800-81714600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:81712000-81713000	Enhancers	Dnd41	blood
8	chr14:81712000-81714200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:81712000-81714400	Enhancers	NHDF-Ad	bronchial
10	chr14:81712200-81713600	Enhancers	Ovary	ovary
11	chr14:81712200-81714400	Enhancers	Fetal Muscle Trunk	muscle
12	chr14:81712400-81714200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:81712600-81714200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:81712600-81714200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:81712600-81714600	Flanking Active TSS	HSMM	muscle
16	chr14:81712800-81713200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:81712800-81713200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:81712800-81714200	Enhancers	HMEC	breast
19	chr14:81712800-81714600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:81712800-81714600	Enhancers	Fetal Muscle Leg	muscle
21	chr14:81712800-81714800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:81712800-81714800	Enhancers	HSMMtube	muscle

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