Variant report

Variant	nsv1036542
Chromosome Location	chr14:79478352-79518230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADCK1-4	chr14:79479847-79480188	l_1017_chr14:79479846-79482353_testes
2	lnc-ADCK1-4	chr14:79482052-79482353	l_1017_chr14:79479846-79482353_testes

Extended variants
information (count: 1503 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1503 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571150880	chr14:79478360-79478361	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs537071465	chr14:79478422-79478423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371357998	chr14:79478487-79478488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150477118	chr14:79478554-79478555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567397281	chr14:79478598-79478599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2964908	chr14:79478650-79478651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185141433	chr14:79478735-79478736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112126666	chr14:79478745-79478746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138312733	chr14:79478769-79478770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191084017	chr14:79478774-79478775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375038115	chr14:79478821-79478822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558054296	chr14:79478871-79478872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574383950	chr14:79479023-79479024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181829342	chr14:79479053-79479054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563624873	chr14:79479063-79479064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116070740	chr14:79479119-79479120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542761223	chr14:79479155-79479156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186193312	chr14:79479159-79479160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528316998	chr14:79479200-79479201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76948620	chr14:79479209-79479210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541925518	chr14:79479244-79479245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536422963	chr14:79479266-79479267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565211761	chr14:79479376-79479377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191784212	chr14:79479377-79479378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550599204	chr14:79479436-79479437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554918331	chr14:79479446-79479447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536304314	chr14:79479457-79479458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546397192	chr14:79479458-79479459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113256599	chr14:79479503-79479504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565909502	chr14:79479511-79479512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573203835	chr14:79479582-79479583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560339448	chr14:79479590-79479591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558015563	chr14:79479621-79479622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76717003	chr14:79479639-79479640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537345475	chr14:79479652-79479653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572262343	chr14:79479658-79479659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2938027	chr14:79479704-79479705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111979243	chr14:79479754-79479755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183197645	chr14:79479799-79479800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188262374	chr14:79479810-79479811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191003208	chr14:79479825-79479826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545265572	chr14:79479846-79479847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565176978	chr14:79479852-79479853	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs531644060	chr14:79479857-79479858	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs564146903	chr14:79479862-79479863	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs544188039	chr14:79479867-79479868	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs560908099	chr14:79479910-79479911	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs548354298	chr14:79479926-79479927	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs79107226	chr14:79479941-79479942	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs201496578	chr14:79479959-79479960	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Basal cell lymphoma	17053054	CNVD
cataract	16735990	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Cancer	17440070	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79476600-79478600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:79477200-79478400	Enhancers	Rectal Smooth Muscle	rectum
3	chr14:79477200-79478800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:79477200-79479000	Enhancers	NHLF	lung
5	chr14:79477400-79478400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:79477400-79478400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:79477400-79478400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:79477400-79483200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:79477400-79483200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:79477600-79483600	Weak transcription	NHDF-Ad	bronchial
11	chr14:79477800-79478400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr14:79478000-79478400	Flanking Active TSS	NHEK	skin
13	chr14:79478200-79478400	Active TSS	NH-A	brain
14	chr14:79478200-79478400	Active TSS	Osteobl	bone
15	chr14:79478200-79479200	Enhancers	HMEC	breast
16	chr14:79478200-79479200	Enhancers	HUVEC	blood vessel
17	chr14:79478200-79482400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:79478200-79482400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:79478200-79483000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:79478200-79485400	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:79478400-79479000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr14:79478400-79479000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:79478400-79479000	Enhancers	NHEK	skin
24	chr14:79478400-79479000	Enhancers	Osteobl	bone
25	chr14:79478400-79479200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:79478400-79479400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:79478400-79483000	Weak transcription	NH-A	brain
28	chr14:79478400-79485200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:79479000-79482400	Weak transcription	Osteobl	bone
30	chr14:79479000-79482600	Weak transcription	NHLF	lung
31	chr14:79479000-79482800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:79479200-79482800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:79479400-79479600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:79479400-79479800	Weak transcription	HMEC	breast
35	chr14:79479400-79482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:79479600-79479800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:79480600-79482600	Weak transcription	HMEC	breast
38	chr14:79481200-79481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:79481400-79481600	Enhancers	Fetal Stomach	stomach
40	chr14:79482000-79482200	ZNF genes & repeats	HSMMtube	muscle
41	chr14:79482200-79484000	Enhancers	A549	lung
42	chr14:79482200-79484200	Enhancers	HSMMtube	muscle
43	chr14:79482400-79483000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:79482400-79483800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:79482400-79485800	Enhancers	Osteobl	bone
46	chr14:79482600-79486200	Enhancers	HSMM	muscle
47	chr14:79482600-79486200	Enhancers	NHLF	lung
48	chr14:79482800-79483800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:79482800-79484000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:79482800-79484000	Enhancers	HMEC	breast

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