Variant report

Variant	nsv974331
Chromosome Location	chr14:42615553-42619567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:42610518..42612442-chr14:42615721..42617271,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192988284	chr14:42618261-42618262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574911509	chr14:42618292-42618293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183273344	chr14:42618293-42618294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187118147	chr14:42618326-42618327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191224994	chr14:42618358-42618359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545749887	chr14:42618406-42618407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564441614	chr14:42618453-42618454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs996276	chr14:42618460-42618461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544031591	chr14:42618470-42618471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562122460	chr14:42618550-42618551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372066660	chr14:42618554-42618555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547970846	chr14:42618555-42618556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560250231	chr14:42618557-42618558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78770383	chr14:42618562-42618563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs996277	chr14:42618568-42618569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147886973	chr14:42618601-42618602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183673322	chr14:42618613-42618614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111452991	chr14:42618641-42618642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549975311	chr14:42618649-42618650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139871242	chr14:42618695-42618696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189220286	chr14:42618720-42618721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553982590	chr14:42618754-42618755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572157200	chr14:42618863-42618864	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539466891	chr14:42618869-42618870	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142874243	chr14:42618879-42618880	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576359851	chr14:42618894-42618895	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543757718	chr14:42618927-42618928	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193256746	chr14:42618993-42618994	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116167106	chr14:42619012-42619013	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs541568025	chr14:42619021-42619022	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560311079	chr14:42619033-42619034	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs185010573	chr14:42619034-42619035	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs552236068	chr14:42619050-42619051	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564049692	chr14:42619070-42619071	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs151052809	chr14:42619084-42619085	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs140317096	chr14:42619112-42619113	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs568301180	chr14:42619124-42619125	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535292904	chr14:42619259-42619260	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs1954627	chr14:42619261-42619262	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140054978	chr14:42619263-42619264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77274527	chr14:42619265-42619266	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs12148026	chr14:42619332-42619333	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1954626	chr14:42619335-42619336	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576020304	chr14:42619339-42619340	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42618200-42618400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:42618200-42618800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:42618400-42619000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:42618800-42619000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:42618800-42619000	Enhancers	Osteobl	bone
6	chr14:42619000-42619200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:42619000-42619200	Flanking Active TSS	Osteobl	bone
8	chr14:42619000-42619400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:42619200-42619400	Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links