Variant report

Variant	nsv519644
Chromosome Location	chr14:70534823-70541026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70536677..70539751-chr14:70540125..70543304,3	MCF-7	breast:
2	chr14:70512370..70513411-chr14:70540384..70541688,17	MCF-7	breast:
3	chr14:70197738..70198601-chr14:70540269..70540977,2	MCF-7	breast:
4	chr14:70512491..70513102-chr14:70540366..70541264,5	MCF-7	breast:
5	chr14:70197690..70198396-chr14:70540247..70541152,2	MCF-7	breast:
6	chr14:70284892..70285665-chr14:70540396..70541290,4	MCF-7	breast:
7	chr14:70512725..70514427-chr14:70538303..70541776,3	MCF-7	breast:
8	chr14:70329637..70330392-chr14:70539675..70540590,2	MCF-7	breast:
9	chr14:70285510..70286099-chr14:70540409..70541333,2	K562	blood:
10	chr14:70285025..70285958-chr14:70540373..70541349,3	MCF-7	breast:
11	chr14:70279519..70280030-chr14:70540702..70541378,2	MCF-7	breast:
12	chr14:70536677..70539751-chr14:70540125..70543304,3	MCF-7	breast:

No data

Extended variants
information (count: 250 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150952	chr14:70534823-70534824	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574724505	chr14:70534841-70534842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370475737	chr14:70534846-70534847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369013046	chr14:70534860-70534861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560328805	chr14:70534877-70534878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10142162	chr14:70534910-70534911	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139024351	chr14:70534919-70534920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560555314	chr14:70534920-70534921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114558987	chr14:70534925-70534926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149867487	chr14:70534936-70534937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567957683	chr14:70534950-70534951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115113347	chr14:70534974-70534975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183445085	chr14:70534978-70534979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371674560	chr14:70535089-70535090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117106066	chr14:70535111-70535112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557890409	chr14:70535160-70535161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532450932	chr14:70535182-70535183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377554772	chr14:70535183-70535184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567611491	chr14:70535197-70535198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75760981	chr14:70535198-70535199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555382967	chr14:70535199-70535200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28362750	chr14:70535236-70535237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572127106	chr14:70535266-70535267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61977418	chr14:70535392-70535393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187797996	chr14:70535398-70535399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557741793	chr14:70535423-70535424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575899501	chr14:70535433-70535434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114735401	chr14:70535436-70535437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542817049	chr14:70535455-70535456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553351799	chr14:70535485-70535486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371157994	chr14:70535487-70535488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546027810	chr14:70535536-70535537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375953122	chr14:70535559-70535560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543436596	chr14:70535566-70535567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111307421	chr14:70535569-70535570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146721414	chr14:70535574-70535575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190887268	chr14:70535575-70535576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140356619	chr14:70535632-70535633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183256357	chr14:70535689-70535690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35991264	chr14:70535748-70535749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188134779	chr14:70535752-70535753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563811415	chr14:70535775-70535776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145558363	chr14:70535802-70535803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562000918	chr14:70535804-70535805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537182076	chr14:70535812-70535813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57637646	chr14:70535831-70535832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11849700	chr14:70535839-70535840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150951	chr14:70535875-70535876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs534724042	chr14:70535884-70535885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150950	chr14:70535899-70535900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:68)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70512800-70535600	Weak transcription	Psoas Muscle	Psoas
2	chr14:70526400-70549000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:70530600-70548800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:70534000-70536800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:70534600-70535000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:70534800-70536000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:70535000-70536000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:70535600-70535800	Enhancers	Psoas Muscle	Psoas
9	chr14:70535600-70536400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:70535600-70536600	Enhancers	HepG2	liver
11	chr14:70535800-70536200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:70535800-70536200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:70535800-70536200	Weak transcription	Psoas Muscle	Psoas
14	chr14:70536000-70536400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:70536000-70537800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr14:70536200-70536800	Enhancers	Psoas Muscle	Psoas
17	chr14:70536600-70540400	Weak transcription	HepG2	liver
18	chr14:70536800-70552200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:70537800-70538600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:70538600-70539000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr14:70539000-70552200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:70539800-70541200	Enhancers	Hela-S3	cervix
23	chr14:70540400-70541400	Enhancers	HepG2	liver
24	chr14:70541000-70541200	Enhancers	Pancreas	Pancrea

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