Variant report

Variant	esv3414980
Chromosome Location	chr5:89364646-89366694
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	chr5:89366544..89368641-chr5:89706586..89709368,2	K562	blood:
2	chr5:89363010..89365462-chr5:89704456..89706628,2	K562	blood:

Variant related genes	Relation type
ENSG00000153140	chromatin interactions
ENSG00000255647	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558059820	chr5:89364714-89364715	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs571595437	chr5:89364766-89364767	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533962267	chr5:89364797-89364798	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186217178	chr5:89364800-89364801	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs559017899	chr5:89364810-89364811	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs279763	chr5:89364877-89364878	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556625573	chr5:89364905-89364906	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147212966	chr5:89364911-89364912	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs818946	chr5:89364934-89364935	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192071271	chr5:89364987-89364988	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs114388855	chr5:89364992-89364993	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs181737668	chr5:89365011-89365012	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147978349	chr5:89365031-89365032	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs201018064	chr5:89365038-89365039	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs199499472	chr5:89365040-89365041	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs35996713	chr5:89365041-89365042	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs6866956	chr5:89365042-89365043	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs1698124	chr5:89365045-89365046	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561279724	chr5:89365055-89365056	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530325967	chr5:89365105-89365106	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs548769628	chr5:89365187-89365188	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568958089	chr5:89365202-89365203	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531314576	chr5:89365203-89365204	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549454696	chr5:89365344-89365345	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs551432701	chr5:89365362-89365363	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571558941	chr5:89365402-89365403	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534126309	chr5:89365420-89365421	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs564507400	chr5:89365424-89365425	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs28602474	chr5:89365429-89365430	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs139650447	chr5:89365450-89365451	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	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
Ovarian cancer	21720365	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
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	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

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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