Variant report

Variant	esv3324417
Chromosome Location	chr5:57318244-57336897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57334929..57336720-chr5:57754003..57756579,2	MCF-7	breast:
2	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
3	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
4	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
5	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
6	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
7	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
8	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
9	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 283 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1454920	chr5:57318295-57318296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563035478	chr5:57318317-57318318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140611521	chr5:57318321-57318322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530244443	chr5:57318322-57318323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548797463	chr5:57318342-57318343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563708642	chr5:57318377-57318378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531282288	chr5:57318410-57318411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79811520	chr5:57318421-57318422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564427316	chr5:57318436-57318437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145669923	chr5:57318469-57318470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146730236	chr5:57318504-57318505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568509025	chr5:57318522-57318523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140275657	chr5:57318533-57318534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557151719	chr5:57318550-57318551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575345079	chr5:57318564-57318565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539751669	chr5:57318588-57318589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150385425	chr5:57318605-57318606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370048157	chr5:57318625-57318626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572895589	chr5:57318630-57318631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540198546	chr5:57318697-57318698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138162038	chr5:57318704-57318705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201513266	chr5:57318708-57318709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370576873	chr5:57318723-57318724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528838957	chr5:57318728-57318729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561510788	chr5:57318736-57318737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6878825	chr5:57318751-57318752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573706925	chr5:57318763-57318764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543968241	chr5:57318817-57318818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372215999	chr5:57318833-57318834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6879141	chr5:57318866-57318867	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185849920	chr5:57318877-57318878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546092303	chr5:57318914-57318915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386688311	chr5:57318931-57318932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6450458	chr5:57318933-57318934	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs71624183	chr5:57318955-57318956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12518604	chr5:57318966-57318967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145773593	chr5:57319010-57319011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138614402	chr5:57319026-57319027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191097444	chr5:57319071-57319072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13157641	chr5:57319115-57319116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183102043	chr5:57319116-57319117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539612545	chr5:57319117-57319118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13171909	chr5:57319120-57319121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200030983	chr5:57319178-57319179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78151875	chr5:57319219-57319220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547093083	chr5:57319255-57319256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566805590	chr5:57319280-57319281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78352812	chr5:57319352-57319353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555387526	chr5:57319362-57319363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147371877	chr5:57319373-57319374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	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
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	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
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57315400-57318400	Enhancers	Right Atrium	heart
2	chr5:57317200-57318400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:57317200-57319000	Enhancers	Placenta	Placenta
4	chr5:57317400-57318400	Enhancers	Hela-S3	cervix
5	chr5:57317600-57318600	Enhancers	Ovary	ovary
6	chr5:57317800-57318400	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr5:57318200-57318400	Enhancers	Right Ventricle	heart
8	chr5:57318400-57321200	Weak transcription	Right Ventricle	heart
9	chr5:57321400-57321600	Enhancers	Right Ventricle	heart
10	chr5:57332400-57332600	Enhancers	Stomach Mucosa	stomach
11	chr5:57332600-57338200	Weak transcription	Stomach Mucosa	stomach
12	chr5:57334600-57335000	Enhancers	Fetal Brain Male	brain
13	chr5:57334600-57335000	Enhancers	Right Atrium	heart
14	chr5:57335200-57336000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr5:57335200-57339000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:57335800-57336200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:57335800-57336200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:57335800-57336200	Enhancers	Liver	Liver
19	chr5:57335800-57336800	Enhancers	HMEC	breast
20	chr5:57335800-57337000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:57335800-57337000	Enhancers	NHDF-Ad	bronchial
22	chr5:57335800-57337200	Enhancers	HSMM	muscle
23	chr5:57335800-57337400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:57336000-57336600	Enhancers	Osteobl	bone
25	chr5:57336000-57336800	Enhancers	NHEK	skin
26	chr5:57336000-57337000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:57336000-57337000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:57336000-57337000	Enhancers	Hela-S3	cervix
29	chr5:57336000-57337000	Enhancers	NH-A	brain
30	chr5:57336000-57337200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:57336000-57337200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:57336000-57337200	Weak transcription	K562	blood
33	chr5:57336200-57338800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:57336600-57338800	Weak transcription	Osteobl	bone
35	chr5:57336800-57338200	Weak transcription	HMEC	breast
36	chr5:57336800-57338600	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links