Variant report

Variant	nsv980643
Chromosome Location	chr5:53025294-53055999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52777916..52780456-chr5:53034020..53036335,2	MCF-7	breast:
2	chr5:53029523..53030741-chr5:53166540..53167569,3	MCF-7	breast:
3	chr5:53029076..53030387-chr5:53166234..53167555,10	MCF-7	breast:
4	chr5:53038002..53040477-chr5:53041042..53043406,2	MCF-7	breast:
5	chr5:53038002..53040477-chr5:53041042..53043406,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134363	chromatin interactions

Extended variants
information (count: 795 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550646615	chr5:53026202-53026203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113622281	chr5:53026212-53026213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545859389	chr5:53026224-53026225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72757303	chr5:53026244-53026245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539477504	chr5:53026270-53026271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145510088	chr5:53026271-53026272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566799767	chr5:53026283-53026284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577064426	chr5:53026294-53026295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147720225	chr5:53026312-53026313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555552341	chr5:53026378-53026379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557411815	chr5:53026419-53026420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200232772	chr5:53026425-53026426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538341781	chr5:53026435-53026436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556287080	chr5:53026457-53026458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72757304	chr5:53026482-53026483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543993456	chr5:53026534-53026535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs173905	chr5:53026535-53026536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111589224	chr5:53026548-53026549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560094957	chr5:53026604-53026605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182486420	chr5:53026617-53026618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140988889	chr5:53026665-53026666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561533721	chr5:53026678-53026679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531855416	chr5:53026683-53026684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550385367	chr5:53026853-53026854	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs13174659	chr5:53026935-53026936	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533037783	chr5:53026961-53026962	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs256092	chr5:53026986-53026987	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs566308734	chr5:53027017-53027018	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534101828	chr5:53027032-53027033	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185672369	chr5:53027046-53027047	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567548945	chr5:53027133-53027134	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559677980	chr5:53027175-53027176	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs367842630	chr5:53027255-53027256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115852321	chr5:53027333-53027334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372311257	chr5:53027339-53027340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571438412	chr5:53027389-53027390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538721361	chr5:53027448-53027449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553767627	chr5:53027457-53027458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572311669	chr5:53027537-53027538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536319849	chr5:53027539-53027540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151333660	chr5:53027545-53027546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140445087	chr5:53027546-53027547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150413895	chr5:53027573-53027574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146565674	chr5:53027588-53027589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570965083	chr5:53027590-53027591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565449669	chr5:53027638-53027639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147216797	chr5:53027641-53027642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368689482	chr5:53027642-53027643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75954651	chr5:53027643-53027644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141301274	chr5:53027671-53027672	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Chronic lymphocytic leukemia	21546498	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53026200-53026800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:53026600-53026800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:53026600-53028000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:53026600-53028000	Enhancers	HUVEC	blood vessel
5	chr5:53026800-53027200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:53026800-53027400	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:53026800-53027600	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:53026800-53027800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:53027000-53027400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:53027000-53027600	Enhancers	Primary B cells from cord blood	blood
11	chr5:53027200-53028200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:53029800-53030000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:53034800-53035400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:53034800-53035400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:53034800-53035600	Enhancers	HMEC	breast
16	chr5:53035000-53035400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:53035000-53035400	Enhancers	Esophagus	oesophagus
18	chr5:53041800-53042000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:53042000-53046600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:53046600-53046800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:53046800-53052600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:53048000-53048400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:53053000-53055800	Weak transcription	Right Atrium	heart

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