Variant report

Variant	nsv965510
Chromosome Location	chr5:58802295-58809224
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:58801703..58803307-chr5:58968055..58970489,2	MCF-7	breast:
2	chr5:58802090..58802764-chr5:58956093..58957045,3	MCF-7	breast:
3	chr5:58803367..58805536-chr5:58956722..58959458,2	MCF-7	breast:
4	chr5:58803075..58803840-chr5:58956390..58957074,2	MCF-7	breast:
5	chr5:58802160..58802725-chr5:58865559..58866459,3	MCF-7	breast:
6	chr5:58801963..58802644-chr5:58962690..58963296,2	MCF-7	breast:
7	chr5:58801995..58802802-chr5:58968998..58969985,2	MCF-7	breast:
8	chr5:58806024..58808912-chr5:58817531..58819530,2	MCF-7	breast:
9	chr5:58801872..58802902-chr5:58956210..58957251,7	MCF-7	breast:
10	chr5:58801867..58802786-chr5:58968976..58969858,3	MCF-7	breast:

No data

Extended variants
information (count: 211 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574803461	chr5:58802312-58802313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79049894	chr5:58802386-58802387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557129075	chr5:58802411-58802412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562168308	chr5:58802415-58802416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188743859	chr5:58802462-58802463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180771572	chr5:58802517-58802518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565080542	chr5:58802533-58802534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141063311	chr5:58802542-58802543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547615236	chr5:58802616-58802617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185978403	chr5:58802617-58802618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192113272	chr5:58802648-58802649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550169138	chr5:58802703-58802704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569975904	chr5:58802752-58802753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539105744	chr5:58802766-58802767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs66605058	chr5:58802782-58802783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566170703	chr5:58802838-58802839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182273036	chr5:58802846-58802847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374619640	chr5:58802854-58802855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144890942	chr5:58802861-58802862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575540917	chr5:58802885-58802886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574764769	chr5:58802904-58802905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543736920	chr5:58802964-58802965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138567055	chr5:58802967-58802968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575995286	chr5:58802983-58802984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186947563	chr5:58803014-58803015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564780861	chr5:58803038-58803039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554608750	chr5:58803093-58803094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527390736	chr5:58803104-58803105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541192318	chr5:58803106-58803107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372880950	chr5:58803107-58803108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190600248	chr5:58803112-58803113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111262100	chr5:58803113-58803114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536321342	chr5:58803157-58803158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369872650	chr5:58803158-58803159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541070962	chr5:58803174-58803175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550130467	chr5:58803175-58803176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116643245	chr5:58803227-58803228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532358462	chr5:58803234-58803235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35126822	chr5:58803365-58803366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148882960	chr5:58803375-58803376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566007674	chr5:58803381-58803382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56075449	chr5:58803418-58803419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554721822	chr5:58803494-58803495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200741344	chr5:58803500-58803501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557621145	chr5:58803505-58803506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71925624	chr5:58803506-58803507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56226964	chr5:58803508-58803509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61334148	chr5:58803509-58803510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72767798	chr5:58803510-58803511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115883018	chr5:58803548-58803549	Weak transcription Enhancers	n/a	n/a	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58787000-58803800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58796600-58813200	Weak transcription	Psoas Muscle	Psoas
3	chr5:58799800-58809000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:58800600-58815000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:58801200-58802600	Weak transcription	Stomach Mucosa	stomach
6	chr5:58801400-58817000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:58801800-58804000	Enhancers	A549	lung
8	chr5:58802600-58803000	Enhancers	Stomach Mucosa	stomach
9	chr5:58802800-58803200	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:58803800-58804800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:58804000-58804200	Flanking Active TSS	A549	lung
12	chr5:58804200-58804600	Enhancers	A549	lung
13	chr5:58804600-58805400	Flanking Active TSS	A549	lung
14	chr5:58804800-58819800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:58805400-58805600	Enhancers	A549	lung
16	chr5:58805600-58806000	Weak transcription	A549	lung
17	chr5:58806000-58806400	Enhancers	A549	lung
18	chr5:58806400-58807000	Flanking Active TSS	A549	lung
19	chr5:58807000-58807600	Enhancers	A549	lung
20	chr5:58807600-58807800	Flanking Active TSS	A549	lung
21	chr5:58807800-58808200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:58807800-58812000	Genic enhancers	A549	lung
23	chr5:58808200-58813200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:58809000-58809800	Enhancers	Pancreatic Islets	Pancreatic Islet

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