Variant report

Variant	nsv528576
Chromosome Location	chr5:53706396-53721698
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:46)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:53707958..53709702-chr5:53710351..53711934,2	MCF-7	breast:
2	chr5:53602939..53610771-chr5:53710247..53722415,26	MCF-7	breast:
3	chr5:53604517..53608488-chr5:53715576..53720642,6	K562	blood:
4	chr5:53712162..53714149-chr5:53720811..53722401,2	MCF-7	breast:
5	chr5:53538281..53541214-chr5:53714067..53715639,2	K562	blood:
6	chr5:53605229..53608006-chr5:53721190..53723549,2	K562	blood:
7	chr5:53605268..53607930-chr5:53720839..53723651,4	MCF-7	breast:
8	chr5:53699841..53702592-chr5:53710885..53713599,3	MCF-7	breast:
9	chr5:53550109..53551023-chr5:53717085..53718164,3	MCF-7	breast:
10	chr5:53655301..53657989-chr5:53712395..53714318,2	MCF-7	breast:
11	chr5:53606163..53608284-chr5:53705901..53710107,3	MCF-7	breast:
12	chr5:53701887..53704886-chr5:53705061..53707959,3	MCF-7	breast:
13	chr5:53675385..53676391-chr5:53715218..53716067,3	MCF-7	breast:
14	chr5:53711387..53714618-chr5:53715835..53718842,3	K562	blood:
15	chr5:53719508..53722499-chr5:54137600..54140313,3	K562	blood:
16	chr5:53718578..53720158-chr5:53723244..53724898,2	K562	blood:
17	chr5:53711387..53714618-chr5:53715835..53718842,3	K562	blood:
18	chr5:53539131..53540134-chr5:53715293..53716123,3	MCF-7	breast:
19	chr5:53609922..53612070-chr5:53713944..53716138,2	K562	blood:
20	chr5:53705475..53708427-chr5:53711690..53713261,2	K562	blood:
21	chr5:53539202..53540014-chr5:53714954..53715751,2	K562	blood:
22	chr5:53705387..53707287-chr5:53710141..53711888,2	MCF-7	breast:
23	chr5:53709661..53711663-chr5:53712680..53714980,2	K562	blood:
24	chr5:53605136..53609214-chr5:53716413..53722690,8	K562	blood:
25	chr5:53712162..53714149-chr5:53720811..53722401,2	MCF-7	breast:
26	chr5:53689857..53692402-chr5:53711465..53712998,2	K562	blood:
27	chr5:53602823..53608938-chr5:53709150..53718175,28	MCF-7	breast:
28	chr5:53680149..53681970-chr5:53712443..53714056,2	MCF-7	breast:
29	chr5:53605486..53608244-chr5:53707843..53710074,2	K562	blood:
30	chr5:53607342..53608243-chr5:53715631..53716176,2	MCF-7	breast:
31	chr5:53549984..53550567-chr5:53715211..53716004,3	MCF-7	breast:
32	chr5:53605299..53609778-chr5:53707144..53716404,12	K562	blood:
33	chr5:53705475..53708427-chr5:53711690..53713261,2	K562	blood:
34	chr5:53538357..53542067-chr5:53713056..53716360,3	MCF-7	breast:
35	chr5:53606800..53607790-chr5:53715177..53715976,2	MCF-7	breast:
36	chr5:53548094..53550285-chr5:53713089..53714844,2	MCF-7	breast:
37	chr5:53707958..53709702-chr5:53710351..53711934,2	MCF-7	breast:
38	chr5:53622770..53624888-chr5:53710682..53712503,2	MCF-7	breast:
39	chr5:53709661..53711663-chr5:53712680..53714980,2	K562	blood:
40	chr5:53716790..53718959-chr5:53719363..53721587,2	K562	blood:
41	chr5:53606368..53607074-chr5:53712179..53713038,2	MCF-7	breast:
42	chr5:53538177..53541049-chr5:53712039..53713815,2	K562	blood:
43	chr5:53551380..53552931-chr5:53707806..53709672,2	K562	blood:
44	chr5:53705387..53707287-chr5:53710141..53711888,2	MCF-7	breast:
45	chr5:53716790..53718959-chr5:53719363..53721587,2	K562	blood:
46	chr5:53656793..53659189-chr5:53710293..53712506,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSPB3-1	chr5:53710852-53710929	ENSG00000249069.3
2	lnc-HSPB3-1	chr5:53710852-53710957	ENSG00000249069.2
3	lnc-HSPB3-1	chr5:53710852-53710955	ENSG00000249069.3
4	lnc-HSPB3-1	chr5:53710852-53710899	ENSG00000249069.2

No data

Variant related genes	Relation type
ENSG00000249069	chromatin interactions
ENSG00000185305	chromatin interactions

Extended variants
information (count: 740 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16882764	chr5:53706396-53706397	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181717936	chr5:53706401-53706402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs16882766	chr5:53706419-53706420	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574220973	chr5:53706443-53706444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544481659	chr5:53706448-53706449	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139185884	chr5:53706449-53706450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540884849	chr5:53706478-53706479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34555862	chr5:53706492-53706493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373849631	chr5:53706499-53706500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs367738653	chr5:53706502-53706503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79192281	chr5:53706506-53706507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13161451	chr5:53706512-53706513	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114647390	chr5:53706516-53706517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186376355	chr5:53706535-53706536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372250826	chr5:53706650-53706651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs62354468	chr5:53706716-53706717	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368922684	chr5:53706755-53706756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192181137	chr5:53706774-53706775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559373329	chr5:53706779-53706780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374741288	chr5:53706783-53706784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12109287	chr5:53706803-53706804	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143614323	chr5:53706829-53706830	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35472692	chr5:53706837-53706838	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566473077	chr5:53706858-53706859	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533647027	chr5:53706928-53706929	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35700134	chr5:53706935-53706936	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146018179	chr5:53706946-53706947	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553423716	chr5:53706957-53706958	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76998568	chr5:53706967-53706968	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376733062	chr5:53706973-53706974	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs116408261	chr5:53707019-53707020	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544364733	chr5:53707025-53707026	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12109690	chr5:53707026-53707027	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12109395	chr5:53707036-53707037	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76588062	chr5:53707039-53707040	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560275171	chr5:53707065-53707066	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7734566	chr5:53707079-53707080	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542736589	chr5:53707080-53707081	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561468998	chr5:53707081-53707082	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531860144	chr5:53707094-53707095	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7734716	chr5:53707175-53707176	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs76713278	chr5:53707209-53707210	Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543702714	chr5:53707231-53707232	Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370038438	chr5:53707240-53707241	Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533223133	chr5:53707268-53707269	Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545343552	chr5:53707340-53707341	Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77169802	chr5:53707341-53707342	Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575602137	chr5:53707347-53707348	Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs138599340	chr5:53707383-53707384	Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77633593	chr5:53707420-53707421	Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Congenital diaphragmatic hernia	21525063	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53701600-53707200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:53702400-53707000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:53704800-53706800	Weak transcription	K562	blood
4	chr5:53706800-53707600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:53706800-53707800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:53706800-53708000	Strong transcription	K562	blood
7	chr5:53707000-53707200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:53707000-53707600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:53707200-53707600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:53707200-53707600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:53707200-53707600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:53707200-53707800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:53707400-53707800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:53707600-53707800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:53707600-53712000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:53708000-53711000	Weak transcription	K562	blood
17	chr5:53708800-53709000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:53708800-53709000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:53708800-53711800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:53709000-53724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:53711000-53711200	Enhancers	K562	blood
22	chr5:53711000-53712600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr5:53711000-53713000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:53711000-53713200	Enhancers	NHEK	skin
25	chr5:53711000-53713400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:53711200-53711600	Weak transcription	K562	blood
27	chr5:53711200-53712400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:53711200-53713200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:53711200-53713200	Enhancers	HMEC	breast
30	chr5:53711400-53712600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:53711400-53712600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:53711600-53712000	Genic enhancers	K562	blood
33	chr5:53711600-53712400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:53711600-53713200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:53711800-53712200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:53711800-53712600	Enhancers	Osteobl	bone
37	chr5:53711800-53712800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:53712000-53712400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:53712000-53712400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:53712000-53712600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:53712000-53715400	Weak transcription	K562	blood
42	chr5:53712200-53712600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:53712200-53713400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:53712600-53715400	Weak transcription	Osteobl	bone
45	chr5:53713200-53714000	Weak transcription	HMEC	breast
46	chr5:53713400-53714000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:53714000-53714200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:53714000-53714200	Enhancers	HMEC	breast
49	chr5:53714200-53715400	Weak transcription	HMEC	breast
50	chr5:53715400-53715600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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