Variant report

Variant	nsv523773
Chromosome Location	chr5:9357942-9358953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:9358620-9358770	HL-60	blood:	n/a	n/a
2	POLR2A	chr5:9358672-9358744	ProgFib	skin:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:9357965-9358015	SK-N-MC	brain:	n/a
2	chr5:9357965-9358015	SK-N-MC	brain:	n/a
3	chr5:9357965-9358015	SAEC	small airway:	n/a
4	chr5:9357965-9358015	SK-N-SH_RA	brain:	n/a
5	chr5:9357965-9358015	LNCaP	prostate:	n/a
6	chr5:9357965-9358015	Jurkat	blood:	n/a
7	chr5:9357965-9358015	IMR90	lung:	fetal
8	chr5:9357965-9358015	HAEpiC	amniotic membrane:	n/a
9	chr5:9357965-9358015	U87	brain:	n/a
10	chr5:9357965-9358015	GM12891	blood:	n/a
11	chr5:9357965-9358015	Caco-2	colon:	n/a
12	chr5:9357965-9358015	Hepatocyte	liver:	n/a
13	chr5:9357965-9358015	HPAEpiC	pulmonary alveolar:	n/a
14	chr5:9357965-9358015	AG10803	skin:	n/a
15	chr5:9357965-9358015	NHBE	bronchial:	n/a
16	chr5:9357965-9358015	A549	lung:	n/a
17	chr5:9357965-9358015	GM06990	blood:	n/a
18	chr5:9357965-9358015	PANC-1	pancreas:	n/a
19	chr5:9357965-9358015	HMEC	breast:	n/a
20	chr5:9357965-9358015	NHDF-neo	bronchial:	n/a
21	chr5:9357965-9358015	BJ	skin:	n/a
22	chr5:9357965-9358015	SKMC	muscle:	n/a
23	chr5:9357965-9358015	AG09319	gingival:	n/a
24	chr5:9357965-9358015	GM12878	blood:	n/a
25	chr5:9357965-9358015	HRCEpiC	kidney:	n/a
26	chr5:9357965-9358015	K562	blood:	n/a
27	chr5:9357965-9358015	AG09309	skin:	n/a
28	chr5:9357965-9358015	HUVEC	blood vessel:	n/a
29	chr5:9357965-9358015	MCF10A-Er-Src	breast:	n/a
30	chr5:9357965-9358015	HEK293	kidney:	embryo
31	chr5:9357965-9358015	HCT-116	colon:	n/a
32	chr5:9357965-9358015	PrEC	prostate:	n/a
33	chr5:9357965-9358015	GM12892	blood:	n/a
34	chr5:9357965-9358015	AoSMC	blood vessel:	n/a
35	chr5:9357965-9358015	HCPEpiC	choroid plexus:	n/a
36	chr5:9357965-9358015	AG04450	lung:	fetal
37	chr5:9357965-9358015	MCF-7	breast:	n/a
38	chr5:9357965-9358015	NB4	blood:	n/a
39	chr5:9357965-9358015	HEEpiC	esophagus:	n/a
40	chr5:9357965-9358015	SK-N-SH	brain:	n/a
41	chr5:9357965-9358015	BE2_C	brain:	n/a
42	chr5:9357965-9358015	NH-A	brain:	n/a
43	chr5:9357965-9358015	HL-60	blood:	n/a
44	chr5:9357965-9358015	HNPCEpiC	eye:	n/a
45	chr5:9357965-9358015	HRE	kidney:	n/a
46	chr5:9357965-9358015	HRPEpiC	eye:	n/a
47	chr5:9357965-9358015	T-47D	breast:	n/a
48	chr5:9357965-9358015	ECC-1	luminal epithelium:	n/a
49	chr5:9357965-9358015	H1-hESC	embryonic stem cell:	embryo
50	chr5:9357965-9358015	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
ENSG00000248537	TF binding region
ENSG00000248537	CpG island

Extended variants
information (count: 43 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2463506	chr5:9357942-9357943	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112765046	chr5:9357957-9357958	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552286605	chr5:9357958-9357959	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565796460	chr5:9357963-9357964	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534129544	chr5:9357966-9357967	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145696821	chr5:9358086-9358087	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531770632	chr5:9358117-9358118	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567824654	chr5:9358132-9358133	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183387434	chr5:9358200-9358201	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10213796	chr5:9358202-9358203	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576042358	chr5:9358207-9358208	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10213797	chr5:9358214-9358215	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558757918	chr5:9358280-9358281	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138290677	chr5:9358301-9358302	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556530901	chr5:9358307-9358308	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187666264	chr5:9358308-9358309	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561145749	chr5:9358382-9358383	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574737905	chr5:9358413-9358414	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550285129	chr5:9358468-9358469	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543756642	chr5:9358481-9358482	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563610067	chr5:9358489-9358490	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16882519	chr5:9358509-9358510	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552196906	chr5:9358520-9358521	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559177462	chr5:9358546-9358547	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528202561	chr5:9358577-9358578	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142779719	chr5:9358581-9358582	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567872982	chr5:9358585-9358586	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538820033	chr5:9358647-9358648	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs536512559	chr5:9358667-9358668	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs2463507	chr5:9358682-9358683	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570039064	chr5:9358723-9358724	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs538641951	chr5:9358735-9358736	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs144225446	chr5:9358775-9358776	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148384630	chr5:9358785-9358786	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190050538	chr5:9358817-9358818	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs141575781	chr5:9358855-9358856	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542301593	chr5:9358867-9358868	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs150889491	chr5:9358897-9358898	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574670854	chr5:9358912-9358913	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs17196614	chr5:9358947-9358948	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541552897	chr5:9358950-9358951	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs575947444	chr5:9358951-9358952	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs10491235	chr5:9358953-9358954	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
T-cell prolymphocytic leukemia	17713554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Lung adenocarcinoma	17982442	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9332800-9372400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:9347000-9365600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:9351000-9358000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:9351000-9358200	Weak transcription	NHLF	lung
5	chr5:9351000-9359000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:9352200-9358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:9352200-9358800	Weak transcription	NHDF-Ad	bronchial
8	chr5:9354200-9358600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:9354800-9360000	Weak transcription	Esophagus	oesophagus
10	chr5:9355200-9370200	Weak transcription	Pancreas	Pancrea
11	chr5:9355400-9358800	Weak transcription	NHEK	skin
12	chr5:9355400-9359000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:9355400-9359000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:9355600-9359200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:9356000-9358000	Enhancers	Fetal Lung	lung
16	chr5:9356000-9358200	Enhancers	Fetal Kidney	kidney
17	chr5:9356200-9358800	Enhancers	Fetal Stomach	stomach
18	chr5:9356400-9358000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:9356400-9359600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:9356400-9359600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:9356400-9360400	Enhancers	Fetal Heart	heart
22	chr5:9356600-9358000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr5:9356600-9358600	Enhancers	Fetal Muscle Leg	muscle
24	chr5:9356600-9359000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:9356600-9360000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:9356800-9358600	Weak transcription	NH-A	brain
27	chr5:9357000-9358200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:9357000-9358600	Weak transcription	Osteobl	bone
29	chr5:9357000-9358800	Weak transcription	HMEC	breast
30	chr5:9357200-9358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:9357200-9358200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:9357200-9358200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:9357200-9358400	Weak transcription	Fetal Intestine Small	intestine
34	chr5:9357200-9358600	Weak transcription	Placenta	Placenta
35	chr5:9357200-9359000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:9357200-9377800	Weak transcription	Fetal Intestine Large	intestine
37	chr5:9357800-9358000	Enhancers	Brain Substantia Nigra	brain
38	chr5:9357800-9358800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:9357800-9358800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:9357800-9359400	Enhancers	Right Ventricle	heart
41	chr5:9357800-9363200	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:9357800-9365800	Weak transcription	Brain Germinal Matrix	brain
43	chr5:9358000-9359000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:9358000-9359200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:9358000-9389400	Weak transcription	Brain Substantia Nigra	brain
46	chr5:9358200-9358600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:9358200-9358800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:9358200-9358800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:9358200-9358800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:9358200-9359400	Weak transcription	Fetal Kidney	kidney

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