Variant report

Variant	nsv976857
Chromosome Location	chr14:47699994-47704677
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	chr14:47699505..47700030-chr20:46283707..46284523,2	MCF-7	breast:

Extended variants
information (count: 146 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34176954	chr14:47700004-47700005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72680246	chr14:47700019-47700020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557791361	chr14:47700059-47700060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577925965	chr14:47700061-47700062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567088838	chr14:47700075-47700076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543462312	chr14:47700103-47700104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182586511	chr14:47700149-47700150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574233914	chr14:47700225-47700226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528581970	chr14:47700286-47700287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34821924	chr14:47700313-47700314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543222721	chr14:47700329-47700330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560022024	chr14:47700344-47700345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573490841	chr14:47700349-47700350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545654935	chr14:47700354-47700355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565442416	chr14:47700398-47700399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140948575	chr14:47700439-47700440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10142241	chr14:47700445-47700446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549549417	chr14:47700446-47700447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563392102	chr14:47700459-47700460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377394255	chr14:47700470-47700471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548685824	chr14:47700492-47700493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188096004	chr14:47700582-47700583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534513818	chr14:47700606-47700607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2209647	chr14:47700616-47700617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571491329	chr14:47700648-47700649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537451244	chr14:47700700-47700701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557106410	chr14:47700853-47700854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574164717	chr14:47700854-47700855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569576497	chr14:47700931-47700932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61088338	chr14:47700957-47700958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75872441	chr14:47700968-47700969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536708458	chr14:47700969-47700970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80050096	chr14:47700971-47700972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201271643	chr14:47700992-47700993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553524562	chr14:47701082-47701083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537850768	chr14:47701116-47701117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568435722	chr14:47701129-47701130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573427863	chr14:47701157-47701158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551758353	chr14:47701160-47701161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191638865	chr14:47701168-47701169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571369875	chr14:47701218-47701219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537455371	chr14:47701241-47701242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12887395	chr14:47701325-47701326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150182658	chr14:47701333-47701334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534043206	chr14:47701396-47701397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8012843	chr14:47701399-47701400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543382116	chr14:47701430-47701431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562912723	chr14:47701434-47701435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528882227	chr14:47701436-47701437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548624247	chr14:47701440-47701441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47699200-47701600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:47699200-47703600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:47699400-47703000	Weak transcription	HUVEC	blood vessel
4	chr14:47699400-47703600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:47701600-47701800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:47703000-47703600	Enhancers	HUVEC	blood vessel
7	chr14:47703600-47704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:47703600-47704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:47703600-47704000	Flanking Active TSS	HUVEC	blood vessel
10	chr14:47704000-47705600	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links