Variant report

Variant	nsv598178
Chromosome Location	chr5:53566211-53600443
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:53576699..53579266-chr5:53583205..53585780,2	K562	blood:
2	chr5:53568310..53570279-chr5:53598981..53601498,2	MCF-7	breast:
3	chr5:53590079..53592102-chr5:53595752..53597472,2	K562	blood:
4	chr5:53576794..53579117-chr5:53582391..53584085,2	MCF-7	breast:
5	chr5:53592340..53594521-chr5:53596956..53599704,2	MCF-7	breast:
6	chr5:53581576..53583857-chr5:53586666..53588338,2	K562	blood:
7	chr5:53569316..53571436-chr5:54037174..54039171,2	K562	blood:
8	chr5:53592340..53594521-chr5:53596956..53599704,2	MCF-7	breast:
9	chr5:53576794..53579117-chr5:53582391..53584085,2	MCF-7	breast:
10	chr5:53585267..53586836-chr5:53590123..53592193,2	K562	blood:
11	chr5:53566004..53568791-chr5:53604629..53607569,3	MCF-7	breast:
12	chr5:53569911..53571458-chr5:53581817..53583796,2	MCF-7	breast:
13	chr5:53555281..53557666-chr5:53578051..53579974,2	K562	blood:
14	chr5:53560197..53562309-chr5:53565817..53568937,3	K562	blood:
15	chr5:53596876..53599865-chr5:53654457..53656580,3	MCF-7	breast:
16	chr5:53590079..53592102-chr5:53595752..53597472,2	K562	blood:
17	chr5:53445902..53447815-chr5:53568555..53570098,2	K562	blood:
18	chr5:53581576..53583857-chr5:53586666..53588338,2	K562	blood:
19	chr5:53584951..53588079-chr5:53605091..53608980,5	K562	blood:
20	chr5:53588565..53592032-chr5:53594186..53598127,3	MCF-7	breast:
21	chr5:53588656..53590817-chr5:53604942..53607957,3	MCF-7	breast:
22	chr5:53567065..53579931-chr5:53604839..53612520,32	K562	blood:
23	chr5:53566563..53569623-chr5:53569746..53572716,3	K562	blood:
24	chr5:53568310..53570279-chr5:53598981..53601498,2	MCF-7	breast:
25	chr5:53588565..53592032-chr5:53594186..53598127,3	MCF-7	breast:
26	chr5:53564738..53567480-chr5:53605362..53606959,2	MCF-7	breast:
27	chr5:53575794..53580251-chr5:53605599..53608874,5	MCF-7	breast:
28	chr5:53576129..53578413-chr5:53619444..53622393,2	K562	blood:
29	chr5:53576689..53579150-chr5:53604877..53608300,4	MCF-7	breast:
30	chr5:53569911..53571458-chr5:53581817..53583796,2	MCF-7	breast:
31	chr5:53577274..53579314-chr5:53590478..53592809,3	MCF-7	breast:
32	chr5:53569822..53570436-chr5:53605963..53606720,2	MCF-7	breast:
33	chr5:53580773..53585547-chr5:53604120..53607808,4	MCF-7	breast:
34	chr5:53585267..53586836-chr5:53590123..53592193,2	K562	blood:
35	chr5:53566563..53569623-chr5:53569746..53572716,3	K562	blood:
36	chr5:53573044..53575302-chr5:53605024..53607350,2	MCF-7	breast:
37	chr5:53576699..53579266-chr5:53583205..53585780,2	K562	blood:
38	chr5:53577274..53579314-chr5:53590478..53592809,3	MCF-7	breast:
39	chr5:53588809..53592825-chr5:53593597..53595547,4	K562	blood:
40	chr5:53588809..53592825-chr5:53593597..53595547,4	K562	blood:
41	chr5:53417139..53419799-chr5:53571142..53573081,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185305	chromatin interactions

Extended variants
information (count: 1235 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1235 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35920	chr5:53566211-53566212	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574317774	chr5:53566212-53566213	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535332820	chr5:53566226-53566227	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148965401	chr5:53566290-53566291	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575192165	chr5:53566307-53566308	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545771467	chr5:53566318-53566319	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563932075	chr5:53566334-53566335	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563291874	chr5:53566368-53566369	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185442700	chr5:53566449-53566450	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539973787	chr5:53566521-53566522	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562230040	chr5:53566536-53566537	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529493801	chr5:53566546-53566547	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551224516	chr5:53566547-53566548	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187821573	chr5:53566665-53566666	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112455393	chr5:53566673-53566674	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572552774	chr5:53566678-53566679	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563921068	chr5:53566683-53566684	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138698807	chr5:53566685-53566686	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs3905652	chr5:53566690-53566691	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566757306	chr5:53566712-53566713	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534273739	chr5:53566713-53566714	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549083452	chr5:53566726-53566727	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192597027	chr5:53566817-53566818	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141767421	chr5:53566821-53566822	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556776110	chr5:53566845-53566846	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184996041	chr5:53566890-53566891	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146261503	chr5:53566893-53566894	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138134013	chr5:53566907-53566908	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572763741	chr5:53566979-53566980	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141628953	chr5:53566993-53566994	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543379584	chr5:53567011-53567012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150521028	chr5:53567062-53567063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573828700	chr5:53567128-53567129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368436038	chr5:53567135-53567136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544810373	chr5:53567138-53567139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35921	chr5:53567178-53567179	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs374205014	chr5:53567198-53567199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368059505	chr5:53567205-53567206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188151389	chr5:53567224-53567225	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545901015	chr5:53567264-53567265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561726936	chr5:53567268-53567269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529380040	chr5:53567334-53567335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545401874	chr5:53567348-53567349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139508574	chr5:53567357-53567358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527673289	chr5:53567364-53567365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113545973	chr5:53567437-53567438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75274469	chr5:53567467-53567468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567410556	chr5:53567479-53567480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531700339	chr5:53567496-53567497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79713955	chr5:53567514-53567515	Weak transcription Enhancers	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
Breast cancer	22522925	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53537400-53575200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:53549400-53569800	Weak transcription	Fetal Intestine Small	intestine
3	chr5:53553600-53568600	Weak transcription	Primary T cells from cord blood	blood
4	chr5:53555000-53572400	Weak transcription	Right Ventricle	heart
5	chr5:53555600-53575800	Weak transcription	Primary B cells from cord blood	blood
6	chr5:53556000-53567400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:53558800-53575600	Weak transcription	Aorta	Aorta
8	chr5:53559800-53572200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:53560600-53569600	Weak transcription	Right Atrium	heart
10	chr5:53562200-53567800	Weak transcription	Pancreas	Pancrea
11	chr5:53563000-53567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:53565400-53567400	Enhancers	Placenta	Placenta
13	chr5:53565600-53567000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:53565600-53575200	Weak transcription	Fetal Stomach	stomach
15	chr5:53566000-53567000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:53566000-53567600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:53566200-53566400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:53566200-53566600	Strong transcription	K562	blood
19	chr5:53566200-53567200	Enhancers	HMEC	breast
20	chr5:53566400-53568200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:53566600-53566800	Genic enhancers	K562	blood
22	chr5:53566800-53567000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:53566800-53568000	Weak transcription	K562	blood
24	chr5:53567000-53568400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:53567000-53570800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:53567000-53572000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:53567200-53567600	Weak transcription	HMEC	breast
28	chr5:53567400-53567800	Weak transcription	Placenta	Placenta
29	chr5:53567400-53568200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:53567400-53568600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:53567600-53568200	Enhancers	HMEC	breast
32	chr5:53567600-53568600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:53567800-53568000	Enhancers	Placenta	Placenta
34	chr5:53567800-53568200	Enhancers	Pancreas	Pancrea
35	chr5:53567800-53568400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:53568000-53569000	Enhancers	K562	blood
37	chr5:53568000-53569600	Weak transcription	Placenta	Placenta
38	chr5:53568200-53568600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:53568200-53569800	Weak transcription	Pancreas	Pancrea
40	chr5:53568200-53571800	Weak transcription	HMEC	breast
41	chr5:53568200-53595600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:53568400-53571200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr5:53568400-53573600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:53568600-53569400	Enhancers	Dnd41	blood
45	chr5:53568600-53570000	Enhancers	Primary T cells from cord blood	blood
46	chr5:53568600-53570200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr5:53568600-53573800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:53568800-53569000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr5:53569000-53569200	Enhancers	Fetal Thymus	thymus
50	chr5:53569000-53569600	Genic enhancers	K562	blood

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