Variant report

Variant	nsv598951
Chromosome Location	chr5:93788579-93812885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:93781108..93783534-chr5:93793352..93795915,2	K562	blood:
2	chr5:93803592..93805289-chr5:93807331..93808943,2	K562	blood:
3	chr5:93807677..93810311-chr5:93813307..93815784,2	MCF-7	breast:
4	chr5:93797694..93800436-chr5:93809133..93812008,2	MCF-7	breast:
5	chr5:93803592..93805289-chr5:93807331..93808943,2	K562	blood:
6	chr5:93797694..93800436-chr5:93809133..93812008,2	MCF-7	breast:

Extended variants
information (count: 814 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:814 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3797203	chr5:93788579-93788580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556798848	chr5:93788580-93788581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149654465	chr5:93788591-93788592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191471903	chr5:93788606-93788607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17326194	chr5:93788638-93788639	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs182850074	chr5:93788683-93788684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145468813	chr5:93788685-93788686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371893628	chr5:93788705-93788706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541875989	chr5:93788706-93788707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561651078	chr5:93788761-93788762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572741335	chr5:93788790-93788791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187871237	chr5:93788828-93788829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550405645	chr5:93788844-93788845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190619316	chr5:93788852-93788853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370361736	chr5:93788893-93788894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2042001	chr5:93788906-93788907	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144137139	chr5:93788917-93788918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566046092	chr5:93788940-93788941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534722010	chr5:93788980-93788981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140995909	chr5:93789025-93789026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35972207	chr5:93789044-93789045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563316235	chr5:93789045-93789046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568473757	chr5:93789117-93789118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537190454	chr5:93789131-93789132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10061175	chr5:93789138-93789139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576656777	chr5:93789139-93789140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539331576	chr5:93789164-93789165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566749593	chr5:93789177-93789178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183536253	chr5:93789187-93789188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572768308	chr5:93789188-93789189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529220329	chr5:93789241-93789242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143135539	chr5:93789242-93789243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187881243	chr5:93789253-93789254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10069076	chr5:93789309-93789310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs201192021	chr5:93789314-93789315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544367248	chr5:93789332-93789333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148312101	chr5:93789357-93789358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532785284	chr5:93789387-93789388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552800040	chr5:93789411-93789412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559801780	chr5:93789446-93789447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528449043	chr5:93789455-93789456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543952663	chr5:93789473-93789474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548283064	chr5:93789482-93789483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548996390	chr5:93789682-93789683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568165059	chr5:93789722-93789723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192271131	chr5:93789741-93789742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559215446	chr5:93789755-93789756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570278056	chr5:93789756-93789757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184476049	chr5:93789864-93789865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553184206	chr5:93789876-93789877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93775400-93808600	Weak transcription	Left Ventricle	heart
2	chr5:93776400-93811400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:93780000-93799600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:93785800-93789000	Strong transcription	Hela-S3	cervix
5	chr5:93789000-93795000	Weak transcription	Hela-S3	cervix
6	chr5:93795000-93798400	Strong transcription	Hela-S3	cervix
7	chr5:93795800-93819200	Weak transcription	Liver	Liver
8	chr5:93796800-93797400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:93797400-93799400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:93798200-93801000	Enhancers	NHDF-Ad	bronchial
11	chr5:93798400-93798600	Genic enhancers	Hela-S3	cervix
12	chr5:93798600-93799400	Weak transcription	Hela-S3	cervix
13	chr5:93798800-93799800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:93799200-93799600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:93799400-93799800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:93799400-93800000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:93799400-93800000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:93799400-93800000	Enhancers	Osteobl	bone
19	chr5:93799400-93800200	Genic enhancers	Hela-S3	cervix
20	chr5:93799600-93800000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:93799800-93800000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:93800000-93800200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:93800000-93803200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:93800000-93805800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:93800200-93800800	Strong transcription	Hela-S3	cervix
26	chr5:93800200-93805400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:93800200-93812200	Weak transcription	Aorta	Aorta
28	chr5:93800400-93806000	Weak transcription	Esophagus	oesophagus
29	chr5:93800800-93801000	Genic enhancers	Hela-S3	cervix
30	chr5:93800800-93801600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:93800800-93815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:93801000-93801600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:93801000-93801600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:93801000-93801600	Strong transcription	Hela-S3	cervix
35	chr5:93801000-93805200	Weak transcription	NHDF-Ad	bronchial
36	chr5:93801000-93844400	Weak transcription	Pancreas	Pancrea
37	chr5:93801200-93801600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:93801400-93801600	Enhancers	Fetal Lung	lung
39	chr5:93801600-93801800	Genic enhancers	Hela-S3	cervix
40	chr5:93801600-93802600	Weak transcription	Fetal Lung	lung
41	chr5:93801800-93802200	Strong transcription	Hela-S3	cervix
42	chr5:93802000-93810400	Weak transcription	Primary T cells from cord blood	blood
43	chr5:93802200-93803200	Weak transcription	Hela-S3	cervix
44	chr5:93802600-93803000	Enhancers	Fetal Lung	lung
45	chr5:93803000-93803200	Weak transcription	Fetal Lung	lung
46	chr5:93803000-93803600	Enhancers	Brain Germinal Matrix	brain
47	chr5:93803200-93803400	Enhancers	Fetal Kidney	kidney
48	chr5:93803200-93804400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:93803200-93804400	Genic enhancers	Hela-S3	cervix
50	chr5:93803200-93807600	Enhancers	Fetal Lung	lung

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