Variant report

Variant	nsv599297
Chromosome Location	chr5:106056347-106106521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106091111..106094042-chr5:106098260..106100095,2	K562	blood:
2	chr5:106091111..106094042-chr5:106098260..106100095,2	K562	blood:

Extended variants
information (count: 522 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544687766	chr5:106062445-106062446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539631727	chr5:106062446-106062447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186866046	chr5:106062447-106062448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562867546	chr5:106062476-106062477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190173198	chr5:106062487-106062488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542507671	chr5:106062505-106062506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530725041	chr5:106062587-106062588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555412388	chr5:106062627-106062628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147366139	chr5:106062638-106062639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541166508	chr5:106062677-106062678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564015768	chr5:106062730-106062731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369238123	chr5:106062756-106062757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115031480	chr5:106062804-106062805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113710578	chr5:106062814-106062815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529164057	chr5:106062815-106062816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78670173	chr5:106062826-106062827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372555924	chr5:106062858-106062859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570632495	chr5:106062901-106062902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568166838	chr5:106062903-106062904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183324860	chr5:106062918-106062919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34707387	chr5:106062922-106062923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547906890	chr5:106062975-106062976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34104080	chr5:106062976-106062977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188781914	chr5:106062983-106062984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550413923	chr5:106062989-106062990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546506613	chr5:106063009-106063010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193076763	chr5:106063038-106063039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185836088	chr5:106063054-106063055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142490557	chr5:106063059-106063060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572047880	chr5:106063069-106063070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150936392	chr5:106063073-106063074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557860390	chr5:106063088-106063089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186770716	chr5:106063097-106063098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543077046	chr5:106063100-106063101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563149876	chr5:106063120-106063121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370031203	chr5:106063147-106063148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139961873	chr5:106063152-106063153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542557091	chr5:106063153-106063154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567690736	chr5:106063154-106063155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559209578	chr5:106063184-106063185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145812815	chr5:106063233-106063234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114206854	chr5:106063253-106063254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377044934	chr5:106063276-106063277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs293630	chr5:106063288-106063289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191232085	chr5:106063311-106063312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140640604	chr5:106063312-106063313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183822172	chr5:106063369-106063370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570310562	chr5:106063381-106063382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568898522	chr5:106063386-106063387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76726692	chr5:106063414-106063415	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106062400-106063600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:106063000-106063600	Enhancers	Brain Substantia Nigra	brain
3	chr5:106066200-106067200	Enhancers	HMEC	breast
4	chr5:106066200-106067200	Enhancers	NHEK	skin
5	chr5:106066200-106067400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:106066400-106067000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:106066400-106067400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:106066600-106067000	ZNF genes & repeats	Esophagus	oesophagus
9	chr5:106070800-106072400	Weak transcription	HUVEC	blood vessel
10	chr5:106072400-106072800	Enhancers	HUVEC	blood vessel
11	chr5:106072400-106073000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:106072400-106073400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:106072600-106073400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:106072600-106073600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:106072800-106073200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:106072800-106073200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr5:106072800-106073400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:106072800-106073400	Flanking Active TSS	HUVEC	blood vessel
19	chr5:106073400-106074000	Enhancers	HUVEC	blood vessel
20	chr5:106081800-106085400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:106089600-106089800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:106089800-106090600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:106090400-106091400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:106090400-106091800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:106090400-106092000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:106090400-106092400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:106090600-106091000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr5:106090600-106091400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:106090600-106091600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:106090600-106092000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:106090800-106091400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:106091000-106091200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr5:106091000-106091600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:106091000-106091600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:106091200-106091400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:106091200-106092000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr5:106091600-106092000	Enhancers	Dnd41	blood
38	chr5:106092400-106093600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:106093600-106093800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:106101600-106102000	Enhancers	Fetal Brain Male	brain

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