Variant report

Variant	esv3356454
Chromosome Location	chr5:60005795-60010093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:
2	chr5:59990643..59992382-chr5:60006988..60008746,2	K562	blood:
3	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
4	chr5:59998583..60001649-chr5:60008376..60010857,3	K562	blood:
5	chr5:60006154..60007664-chr5:60138828..60140875,2	MCF-7	breast:
6	chr5:59998796..60001597-chr5:60005006..60007976,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164181	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575576583	chr5:60005860-60005861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77659605	chr5:60005865-60005866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7736518	chr5:60005866-60005867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs564710609	chr5:60005886-60005887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566766133	chr5:60005956-60005957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181679360	chr5:60005997-60005998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77595860	chr5:60005998-60005999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559517703	chr5:60006035-60006036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528178803	chr5:60006039-60006040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548247986	chr5:60006043-60006044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561664576	chr5:60006065-60006066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148471974	chr5:60006074-60006075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143765224	chr5:60006117-60006118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147186498	chr5:60006151-60006152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539231035	chr5:60006163-60006164	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185918042	chr5:60006277-60006278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566661205	chr5:60006289-60006290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535548743	chr5:60006302-60006303	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140554399	chr5:60006325-60006326	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189628436	chr5:60006327-60006328	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs6449487	chr5:60006341-60006342	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs10939863	chr5:60006379-60006380	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs558138663	chr5:60006408-60006409	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144295790	chr5:60006427-60006428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372353542	chr5:60006439-60006440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560658091	chr5:60006458-60006459	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs72755178	chr5:60006482-60006483	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs116191252	chr5:60006531-60006532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79259071	chr5:60006558-60006559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530392821	chr5:60006560-60006561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550876634	chr5:60006573-60006574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564253365	chr5:60006683-60006684	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs151158771	chr5:60006685-60006686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546433150	chr5:60006803-60006804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566280638	chr5:60006807-60006808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529353465	chr5:60006838-60006839	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549030116	chr5:60006880-60006881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139094488	chr5:60006962-60006963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1456742	chr5:60007061-60007062	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs537879617	chr5:60007088-60007089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73101423	chr5:60007102-60007103	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531603390	chr5:60007110-60007111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571887176	chr5:60007141-60007142	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181573973	chr5:60007194-60007195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554409968	chr5:60007262-60007263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574246340	chr5:60007281-60007282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1456743	chr5:60007421-60007422	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs35797700	chr5:60007433-60007434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374857812	chr5:60007454-60007455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79670589	chr5:60007468-60007469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	21272361	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60003400-60005800	Weak transcription	Placenta	Placenta
2	chr5:60005800-60006200	Enhancers	Placenta	Placenta

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