Variant report

Variant	nsv902123
Chromosome Location	chr14:82778603-82876504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 780 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:780 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1457990	chr14:82778603-82778604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186162487	chr14:82778620-82778621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191908404	chr14:82778649-82778650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs8010525	chr14:82778668-82778669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183595598	chr14:82778679-82778680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545448267	chr14:82778692-82778693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115599738	chr14:82778702-82778703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188639527	chr14:82778773-82778774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146041643	chr14:82778797-82778798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562237943	chr14:82778824-82778825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576645357	chr14:82778832-82778833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529630573	chr14:82778879-82778880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550998089	chr14:82778959-82778960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192608407	chr14:82778965-82778966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562852794	chr14:82778971-82778972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533385263	chr14:82778996-82778997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551865396	chr14:82779013-82779014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111389142	chr14:82779063-82779064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577172683	chr14:82779072-82779073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567005323	chr14:82779083-82779084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534789058	chr14:82779100-82779101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376107072	chr14:82779117-82779118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78515748	chr14:82779145-82779146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139975476	chr14:82779146-82779147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556980301	chr14:82779169-82779170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568960196	chr14:82779195-82779196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574868401	chr14:82779233-82779234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539064657	chr14:82779234-82779235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183174760	chr14:82779325-82779326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572646358	chr14:82779337-82779338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs118036859	chr14:82779345-82779346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367976319	chr14:82779366-82779367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562266969	chr14:82779388-82779389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186718968	chr14:82779399-82779400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544860453	chr14:82779464-82779465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548245782	chr14:82779484-82779485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529218114	chr14:82779506-82779507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191179199	chr14:82779600-82779601	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551828730	chr14:82779602-82779603	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560565489	chr14:82779611-82779612	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28665528	chr14:82779613-82779614	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116273185	chr14:82779622-82779623	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568202428	chr14:82779692-82779693	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535313864	chr14:82779718-82779719	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61975298	chr14:82779722-82779723	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1457991	chr14:82779730-82779731	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs28633535	chr14:82779793-82779794	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35194772	chr14:82779794-82779795	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143431323	chr14:82779812-82779813	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114565358	chr14:82779834-82779835	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82778200-82778800	Enhancers	Brain Germinal Matrix	brain
2	chr14:82778200-82780400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:82778800-82780200	Weak transcription	Brain Germinal Matrix	brain
4	chr14:82779400-82780200	Enhancers	Fetal Stomach	stomach
5	chr14:82779400-82781400	Enhancers	Fetal Lung	lung
6	chr14:82779600-82780000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr14:82779800-82780600	Enhancers	Ovary	ovary
8	chr14:82779800-82780800	Enhancers	Brain Hippocampus Middle	brain
9	chr14:82780000-82781000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:82780200-82780600	Enhancers	Brain Substantia Nigra	brain
11	chr14:82780200-82780600	Weak transcription	Fetal Stomach	stomach
12	chr14:82780200-82780800	Enhancers	Brain Germinal Matrix	brain
13	chr14:82780200-82781000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:82780400-82780800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:82780400-82781000	Enhancers	Brain Cingulate Gyrus	brain
16	chr14:82780600-82781200	Enhancers	Fetal Stomach	stomach
17	chr14:82788200-82788600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:82788400-82788600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:82792400-82792600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:82792400-82792800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:82792400-82793000	ZNF genes & repeats	Aorta	Aorta
22	chr14:82792600-82792800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:82792800-82793000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:82807200-82807600	Enhancers	Fetal Stomach	stomach
25	chr14:82807400-82808600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr14:82807600-82808000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:82810000-82810400	Enhancers	Fetal Brain Male	brain
28	chr14:82810400-82810800	Weak transcription	Fetal Brain Male	brain
29	chr14:82810800-82811000	Enhancers	Fetal Brain Male	brain
30	chr14:82811000-82812400	Weak transcription	Fetal Brain Male	brain
31	chr14:82812400-82812800	Enhancers	Fetal Brain Male	brain
32	chr14:82825000-82825400	Enhancers	Fetal Brain Male	brain
33	chr14:82828200-82829400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:82829000-82829400	Enhancers	Adipose Nuclei	Adipose
35	chr14:82829000-82829400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr14:82850200-82850400	Enhancers	Gastric	stomach
37	chr14:82853600-82855200	Enhancers	Brain Substantia Nigra	brain
38	chr14:82853600-82855400	Enhancers	Brain Anterior Caudate	brain
39	chr14:82853800-82855200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:82854000-82854600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:82854000-82855400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr14:82854200-82855000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr14:82854200-82855400	Enhancers	Brain Cingulate Gyrus	brain
44	chr14:82854200-82856000	Enhancers	Brain Hippocampus Middle	brain
45	chr14:82854400-82855800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:82854400-82856200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr14:82854800-82855400	Enhancers	Aorta	Aorta
48	chr14:82855000-82855200	Enhancers	Brain Angular Gyrus	brain
49	chr14:82855200-82855400	Enhancers	Pancreas	Pancrea
50	chr14:82855400-82856000	Weak transcription	Aorta	Aorta

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