Variant report

Variant	nsv976297
Chromosome Location	chr14:70683711-70684880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70683028..70687657-chr14:70688132..70693219,5	K562	blood:
2	chr14:70683028..70687657-chr14:70688132..70693219,7	K562	blood:
3	chr14:70670090..70672950-chr14:70682600..70684123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258422	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200673929	chr14:70683727-70683728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1958187	chr14:70683740-70683741	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182302094	chr14:70683761-70683762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150134963	chr14:70683766-70683767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575473063	chr14:70683768-70683769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542887542	chr14:70683796-70683797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1958186	chr14:70683869-70683870	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535329816	chr14:70683871-70683872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546766142	chr14:70683915-70683916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564976040	chr14:70683938-70683939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532204912	chr14:70683953-70683954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550611575	chr14:70683989-70683990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547253070	chr14:70684014-70684015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372778847	chr14:70684074-70684075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568806051	chr14:70684090-70684091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138609125	chr14:70684117-70684118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187058182	chr14:70684118-70684119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2182972	chr14:70684173-70684174	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140908017	chr14:70684179-70684180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576002891	chr14:70684244-70684245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192732982	chr14:70684306-70684307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558675965	chr14:70684347-70684348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576931535	chr14:70684354-70684355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183590520	chr14:70684383-70684384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556168958	chr14:70684397-70684398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188476749	chr14:70684481-70684482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555245548	chr14:70684489-70684490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542597837	chr14:70684593-70684594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs193253114	chr14:70684599-70684600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573008263	chr14:70684640-70684641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370255267	chr14:70684686-70684687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565039183	chr14:70684687-70684688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532266747	chr14:70684704-70684705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75440768	chr14:70684745-70684746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs28456157	chr14:70684801-70684802	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529682036	chr14:70684821-70684822	Weak transcription	Chromatin interactive region	1 gene(s)	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70656400-70688400	Weak transcription	Psoas Muscle	Psoas

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