Variant report

Variant	nsv1054051
Chromosome Location	chr14:78772614-78805311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78776084..78778827-chr14:78792503..78794363,2	K562	blood:
2	chr14:78776084..78778827-chr14:78792503..78794363,2	K562	blood:
3	chr14:78789215..78792155-chr14:78794706..78796718,2	K562	blood:
4	chr14:78789215..78792155-chr14:78794706..78796718,2	K562	blood:

Extended variants
information (count: 1227 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1227 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8021038	chr14:78772614-78772615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565259754	chr14:78772615-78772616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531144107	chr14:78772648-78772649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187534560	chr14:78772652-78772653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138651644	chr14:78772672-78772673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567810628	chr14:78772697-78772698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571339407	chr14:78772717-78772718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35326769	chr14:78772821-78772822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536845366	chr14:78772839-78772840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141795821	chr14:78772877-78772878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566528343	chr14:78772882-78772883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538663313	chr14:78772902-78772903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116112523	chr14:78772921-78772922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144598211	chr14:78772941-78772942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562933758	chr14:78772972-78772973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554842891	chr14:78773020-78773021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs986980	chr14:78773023-78773024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs540381469	chr14:78773054-78773055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557219076	chr14:78773168-78773169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568506602	chr14:78773188-78773189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80060242	chr14:78773224-78773225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs8006086	chr14:78773289-78773290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs147729847	chr14:78773308-78773309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17107300	chr14:78773323-78773324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs193085604	chr14:78773340-78773341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184953826	chr14:78773428-78773429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531980677	chr14:78773433-78773434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77108164	chr14:78773494-78773495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75618254	chr14:78773498-78773499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547140167	chr14:78773507-78773508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34790053	chr14:78773546-78773547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs398077897	chr14:78773556-78773557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398043876	chr14:78773557-78773558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555216016	chr14:78773574-78773575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566584897	chr14:78773575-78773576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148483800	chr14:78773582-78773583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189751030	chr14:78773667-78773668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551591537	chr14:78773674-78773675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192464478	chr14:78773689-78773690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142484397	chr14:78773692-78773693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568298875	chr14:78773723-78773724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533769303	chr14:78773726-78773727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs8006711	chr14:78773749-78773750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576606554	chr14:78773769-78773770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56987456	chr14:78773853-78773854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558616344	chr14:78773866-78773867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575557544	chr14:78773919-78773920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7144427	chr14:78773933-78773934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs561443622	chr14:78773945-78773946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73312516	chr14:78774023-78774024	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Acute lymphoblastic leukemia	21098271	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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	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
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78738600-78778200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:78738600-78779000	Weak transcription	Brain Angular Gyrus	brain
3	chr14:78750200-78778400	Weak transcription	Brain Anterior Caudate	brain
4	chr14:78769000-78774000	Enhancers	Brain Germinal Matrix	brain
5	chr14:78769200-78783200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:78769800-78773800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:78771800-78772800	Weak transcription	Fetal Brain Male	brain
8	chr14:78772800-78774600	Enhancers	Fetal Brain Male	brain
9	chr14:78772800-78774800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr14:78773000-78775400	Enhancers	Fetal Brain Female	brain
11	chr14:78773800-78775200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:78774000-78774800	Active TSS	Brain Germinal Matrix	brain
13	chr14:78774000-78774800	Enhancers	Fetal Kidney	kidney
14	chr14:78774000-78774800	Enhancers	Fetal Lung	lung
15	chr14:78774600-78782600	Weak transcription	Fetal Brain Male	brain
16	chr14:78774800-78775400	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr14:78774800-78778200	Weak transcription	Fetal Kidney	kidney
18	chr14:78774800-78778200	Weak transcription	Fetal Lung	lung
19	chr14:78775200-78775400	Enhancers	Brain Substantia Nigra	brain
20	chr14:78775200-78778600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:78775400-78777800	Enhancers	Brain Germinal Matrix	brain
22	chr14:78777800-78778600	Weak transcription	Brain Germinal Matrix	brain
23	chr14:78777800-78778800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:78777800-78779800	Enhancers	Brain Hippocampus Middle	brain
25	chr14:78778000-78778200	Weak transcription	Brain Substantia Nigra	brain
26	chr14:78778200-78778800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:78778200-78779000	Enhancers	Brain Cingulate Gyrus	brain
28	chr14:78778200-78779600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:78778200-78779600	Enhancers	Fetal Kidney	kidney
30	chr14:78778200-78779800	Enhancers	Fetal Lung	lung
31	chr14:78778200-78781000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr14:78778200-78781200	Enhancers	Brain Substantia Nigra	brain
33	chr14:78778400-78778600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:78778400-78778600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr14:78778400-78779400	Enhancers	Brain Anterior Caudate	brain
36	chr14:78778400-78779600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr14:78778600-78778800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:78778600-78779000	Enhancers	Brain Germinal Matrix	brain
39	chr14:78778600-78779600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:78778600-78780400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:78778800-78780600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:78778800-78781600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:78778800-78781600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:78779000-78779200	Weak transcription	Brain Germinal Matrix	brain
45	chr14:78779000-78779400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:78779000-78779800	Enhancers	Brain Angular Gyrus	brain
47	chr14:78779200-78787000	Enhancers	Brain Germinal Matrix	brain
48	chr14:78779400-78779600	Enhancers	Brain Cingulate Gyrus	brain
49	chr14:78779400-78779600	Enhancers	Colon Smooth Muscle	Colon
50	chr14:78779400-78779800	Enhancers	Adipose Nuclei	Adipose

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