Variant report

Variant	nsv983971
Chromosome Location	chr14:79807305-79814454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:79808364..79810054-chr14:79814203..79817029,2	K562	blood:
2	chr14:79808988..79811235-chr14:81320946..81323442,2	MCF-7	breast:
3	chr14:79808364..79810054-chr14:79814203..79817029,2	K562	blood:
4	chr14:79792610..79795331-chr14:79808836..79811275,2	MCF-7	breast:

Extended variants
information (count: 253 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548020207	chr14:79807326-79807327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531435669	chr14:79807347-79807348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548351503	chr14:79807350-79807351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78422781	chr14:79807390-79807391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76197710	chr14:79807391-79807392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567882303	chr14:79807407-79807408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144011371	chr14:79807478-79807479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547245196	chr14:79807523-79807524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146452522	chr14:79807551-79807552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139529786	chr14:79807571-79807572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556010937	chr14:79807630-79807631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576070195	chr14:79807714-79807715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113723204	chr14:79807733-79807734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555222394	chr14:79807747-79807748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575038674	chr14:79807757-79807758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540937013	chr14:79807784-79807785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145793763	chr14:79807795-79807796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116026600	chr14:79807861-79807862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546157430	chr14:79807906-79807907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561771820	chr14:79807936-79807937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562877570	chr14:79808026-79808027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529215618	chr14:79808027-79808028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531850198	chr14:79808105-79808106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34524857	chr14:79808127-79808128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74248989	chr14:79808159-79808160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192774044	chr14:79808224-79808225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76231648	chr14:79808227-79808228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559376102	chr14:79808229-79808230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527445671	chr14:79808235-79808236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185167521	chr14:79808322-79808323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570388106	chr14:79808326-79808327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368236328	chr14:79808336-79808337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532821676	chr14:79808358-79808359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549764186	chr14:79808408-79808409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190049206	chr14:79808460-79808461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535559690	chr14:79808475-79808476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555467838	chr14:79808553-79808554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533464246	chr14:79808607-79808608	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73325786	chr14:79808627-79808628	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534368488	chr14:79808656-79808657	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs554551105	chr14:79808769-79808770	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs148986633	chr14:79808812-79808813	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs74891898	chr14:79808852-79808853	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546138330	chr14:79808865-79808866	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375779095	chr14:79808882-79808883	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570215446	chr14:79809002-79809003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559496569	chr14:79809003-79809004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556523190	chr14:79809065-79809066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193211934	chr14:79809086-79809087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542322602	chr14:79809121-79809122	Enhancers Weak transcription	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
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
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79792200-79825600	Weak transcription	Aorta	Aorta
2	chr14:79798800-79811600	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:79799800-79809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:79800000-79809000	Weak transcription	Placenta	Placenta
5	chr14:79800200-79808400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:79800800-79807600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:79801400-79807800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:79801600-79807600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:79801600-79809200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:79803000-79809000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:79804600-79808400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:79804600-79808600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:79806000-79807400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:79806000-79807400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:79806000-79808400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:79807200-79807400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:79807200-79809600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:79807400-79807800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr14:79807400-79808000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:79807400-79808400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:79807400-79808600	Enhancers	Adipose Nuclei	Adipose
22	chr14:79807600-79808600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:79807600-79809600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:79807800-79808600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:79807800-79809200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:79807800-79809400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr14:79808000-79809000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:79808400-79808600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr14:79808400-79809600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr14:79808400-79810000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr14:79808400-79810800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr14:79808600-79809000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:79808600-79809000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:79808600-79810800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:79809000-79809600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr14:79809000-79809600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:79809000-79810000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:79809000-79810200	Enhancers	Placenta	Placenta
39	chr14:79809000-79810400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:79809000-79810400	Enhancers	NHEK	skin
41	chr14:79809200-79809600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr14:79809200-79809600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:79809200-79809800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr14:79809400-79809800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:79809800-79813000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:79810400-79811600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:79810600-79812000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:79811200-79811800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:79811600-79812000	Enhancers	Colon Smooth Muscle	Colon
50	chr14:79811800-79812000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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