Variant report

Variant	nsv526881
Chromosome Location	chr5:58302980-58304499
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	chr5:58198695..58199372-chr5:58302993..58303654,4	MCF-7	breast:
2	chr5:58187464..58188134-chr5:58303022..58303724,2	MCF-7	breast:
3	chr5:57075317..57075885-chr5:58303152..58303944,2	K562	blood:
4	chr5:58167410..58168107-chr5:58303044..58303903,2	K562	blood:
5	chr5:58187276..58188206-chr5:58302963..58304103,9	MCF-7	breast:
6	chr5:58167428..58168180-chr5:58303021..58303947,3	MCF-7	breast:
7	chr5:58182127..58183145-chr5:58303182..58303972,4	K562	blood:
8	chr5:58182233..58182743-chr5:58302993..58303927,2	MCF-7	breast:
9	chr5:58187082..58187783-chr5:58302634..58303492,2	K562	blood:

No data

Extended variants
information (count: 62 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1546221	chr5:58302980-58302981	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559160938	chr5:58302984-58302985	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575531770	chr5:58303087-58303088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34537847	chr5:58303102-58303103	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs539677165	chr5:58303110-58303111	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146413856	chr5:58303146-58303147	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs573327118	chr5:58303177-58303178	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542728588	chr5:58303221-58303222	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs140816386	chr5:58303254-58303255	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376468092	chr5:58303268-58303269	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201935066	chr5:58303274-58303275	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574017625	chr5:58303303-58303304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs553414944	chr5:58303325-58303326	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144623020	chr5:58303329-58303330	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs533249380	chr5:58303350-58303351	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146871477	chr5:58303377-58303378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560413001	chr5:58303477-58303478	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551680113	chr5:58303482-58303483	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571309307	chr5:58303514-58303515	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs10065334	chr5:58303558-58303559	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10070588	chr5:58303626-58303627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75962990	chr5:58303636-58303637	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs140736497	chr5:58303660-58303661	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531386817	chr5:58303666-58303667	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs138274381	chr5:58303749-58303750	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs570873784	chr5:58303770-58303771	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs10056025	chr5:58303797-58303798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557980850	chr5:58303826-58303827	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs536003323	chr5:58303847-58303848	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs10065540	chr5:58303873-58303874	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs58940834	chr5:58303879-58303880	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs200019494	chr5:58303898-58303899	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs149157511	chr5:58303923-58303924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572712224	chr5:58303934-58303935	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs113421202	chr5:58303984-58303985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs574029040	chr5:58303988-58303989	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs544650964	chr5:58304033-58304034	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs57527145	chr5:58304045-58304046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143298029	chr5:58304090-58304091	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545325540	chr5:58304131-58304132	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs140621257	chr5:58304240-58304241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs201901405	chr5:58304243-58304244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs560149120	chr5:58304246-58304247	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs76450034	chr5:58304257-58304258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs61511922	chr5:58304269-58304270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561069588	chr5:58304273-58304274	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531319871	chr5:58304315-58304316	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs549434328	chr5:58304323-58304324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs139179723	chr5:58304334-58304335	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs191183244	chr5:58304361-58304362	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58279200-58314000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:58279400-58317600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:58279600-58330400	Weak transcription	Fetal Stomach	stomach
4	chr5:58281800-58321600	Weak transcription	Osteobl	bone
5	chr5:58282400-58306600	Weak transcription	Fetal Intestine Small	intestine
6	chr5:58286200-58312800	Weak transcription	Lung	lung
7	chr5:58286200-58316200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:58286200-58330400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:58286200-58330600	Weak transcription	Thymus	Thymus
10	chr5:58286800-58312200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:58286800-58312600	Weak transcription	Fetal Thymus	thymus
12	chr5:58286800-58312800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:58288800-58330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:58293400-58305200	Enhancers	Primary T cells from cord blood	blood
15	chr5:58295400-58303200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:58296000-58312400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:58296000-58321600	Weak transcription	Aorta	Aorta
18	chr5:58298400-58312600	Weak transcription	Fetal Lung	lung
19	chr5:58298600-58317800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:58299600-58312400	Weak transcription	HSMM	muscle
21	chr5:58299600-58316600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:58299800-58306600	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:58299800-58318000	Weak transcription	Right Ventricle	heart
24	chr5:58300200-58303000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:58300400-58303200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:58300400-58303600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:58301200-58313000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:58301400-58303200	Enhancers	Rectal Smooth Muscle	rectum
29	chr5:58301400-58304200	Enhancers	Hela-S3	cervix
30	chr5:58301400-58305000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:58301600-58303400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:58301600-58303400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:58301600-58303800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:58301600-58303800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr5:58302000-58303200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:58302000-58312800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:58302000-58315200	Weak transcription	Psoas Muscle	Psoas
38	chr5:58302200-58304400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:58302200-58305800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:58302200-58306400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr5:58302400-58312200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr5:58302400-58312800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:58302400-58316200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:58302400-58321600	Weak transcription	Gastric	stomach
45	chr5:58302600-58303400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:58302800-58303000	Genic enhancers	A549	lung
47	chr5:58302800-58303800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:58302800-58303800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:58302800-58304800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:58302800-58312600	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links