Variant report

Variant	esv2488318
Chromosome Location	chr5:95342626-95344333
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	chr5:95295944..95298185-chr5:95343206..95345084,2	K562	blood:

Variant related genes	Relation type
ENSG00000118985	chromatin interactions
ENSG00000251314	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141628153	chr5:95342633-95342634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530420133	chr5:95342647-95342648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187609168	chr5:95342653-95342654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570234414	chr5:95342779-95342780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190691847	chr5:95342780-95342781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552515177	chr5:95342949-95342950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566236221	chr5:95342955-95342956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535127215	chr5:95342976-95342977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555099541	chr5:95342996-95342997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145307683	chr5:95343189-95343190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537033918	chr5:95343201-95343202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557250045	chr5:95343220-95343221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs79957175	chr5:95343232-95343233	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs546040902	chr5:95343253-95343254	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567337870	chr5:95343284-95343285	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs183026113	chr5:95343290-95343291	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541570560	chr5:95343291-95343292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs561433002	chr5:95343292-95343293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs115753899	chr5:95343306-95343307	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs368564059	chr5:95343326-95343327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs75659983	chr5:95343327-95343328	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543886999	chr5:95343660-95343661	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs564075500	chr5:95343661-95343662	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs532707555	chr5:95343662-95343663	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377281958	chr5:95343663-95343664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs367644393	chr5:95343664-95343665	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371807408	chr5:95343665-95343666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs137939295	chr5:95343684-95343685	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs75494331	chr5:95343702-95343703	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs546356364	chr5:95343716-95343717	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs149450865	chr5:95343724-95343725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs557090189	chr5:95343739-95343740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566580564	chr5:95343747-95343748	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191804063	chr5:95343776-95343777	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs570785169	chr5:95343812-95343813	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539355648	chr5:95343846-95343847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs552844640	chr5:95343881-95343882	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572740054	chr5:95343899-95343900	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182852539	chr5:95343923-95343924	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs555116453	chr5:95343975-95343976	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs143882238	chr5:95343994-95343995	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs544255235	chr5:95344010-95344011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563931897	chr5:95344027-95344028	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs79208058	chr5:95344034-95344035	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs73771838	chr5:95344049-95344050	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187599902	chr5:95344089-95344090	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558137981	chr5:95344137-95344138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs115612101	chr5:95344164-95344165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs6878668	chr5:95344170-95344171	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs116230460	chr5:95344171-95344172	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95333400-95351600	Weak transcription	Stomach Mucosa	stomach
2	chr5:95333600-95360800	Weak transcription	Pancreas	Pancrea
3	chr5:95337200-95345000	Weak transcription	Aorta	Aorta
4	chr5:95341800-95343000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:95341800-95343000	Enhancers	HMEC	breast
6	chr5:95341800-95343000	Enhancers	NHEK	skin
7	chr5:95341800-95343200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:95342000-95342800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:95342200-95343000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:95342200-95343200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:95342400-95343200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:95342800-95347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:95343000-95348000	Weak transcription	NHEK	skin
14	chr5:95343000-95348200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:95343200-95344600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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