Variant report

Variant	nsv516577
Chromosome Location	chr5:152324701-152360494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:124)
Chromatin interactive
region (count:2)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:152332003-152332331	HepG2	liver:	n/a	chr5:152332151-152332162
2	CEBPB	chr5:152336825-152337119	Hela-S3	cervix:	n/a	chr5:152337064-152337072 chr5:152336963-152336974 chr5:152336983-152336994
3	CEBPB	chr5:152336818-152337158	HepG2	liver:	n/a	chr5:152337064-152337072 chr5:152336963-152336974 chr5:152336983-152336994
4	CEBPB	chr5:152332005-152332335	IMR90	lung:	n/a	chr5:152332151-152332162
5	CEBPB	chr5:152332064-152332264	H1-hESC	embryonic stem cell:	n/a	chr5:152332151-152332162
6	CEBPB	chr5:152333400-152333656	HepG2	liver:	n/a	n/a
7	CEBPB	chr5:152336869-152337086	K562	blood:	n/a	chr5:152337064-152337072 chr5:152336963-152336974 chr5:152336983-152336994
8	CEBPB	chr5:152336825-152337124	A549	lung:	n/a	chr5:152337064-152337072 chr5:152336963-152336974 chr5:152336983-152336994
9	CEBPB	chr5:152336872-152337072	MCF-7	breast:	n/a	chr5:152337064-152337072 chr5:152336963-152336974 chr5:152336983-152336994
10	CEBPB	chr5:152332017-152332290	A549	lung:	n/a	chr5:152332151-152332162
11	CEBPB	chr5:152342360-152342457	HepG2	liver:	n/a	n/a
12	CEBPB	chr5:152336837-152337081	IMR90	lung:	n/a	chr5:152337064-152337072 chr5:152336963-152336974 chr5:152336983-152336994
13	CTCF	chr5:152345185-152345249	GM13976	blood:	n/a	n/a
14	CTCF	chr5:152352540-152352690	GM12873	blood:	n/a	n/a
15	E2F4	chr5:152336857-152337197	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr5:152333912-152334106	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr5:152341164-152341364	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr5:152357319-152357360	K562	blood:	n/a	n/a
19	FOS	chr5:152336832-152337125	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr5:152336843-152337205	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr5:152336843-152337139	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr5:152336897-152337070	MCF10A-Er-Src	breast:	n/a	n/a
23	FOXA1	chr5:152336824-152337102	T-47D	breast:	n/a	n/a
24	GATA3	chr5:152352118-152352591	T-47D	breast:	n/a	chr5:152352535-152352545
25	GATA3	chr5:152357721-152357959	T-47D	breast:	n/a	n/a
26	GATA3	chr5:152336718-152337087	T-47D	breast:	n/a	n/a
27	GATA3	chr5:152352134-152352695	T-47D	breast:	n/a	chr5:152352535-152352545
28	GATA3	chr5:152336776-152337137	T-47D	breast:	n/a	n/a
29	JUN	chr5:152332003-152332249	HepG2	liver:	n/a	n/a
30	JUND	chr5:152332004-152332302	HepG2	liver:	n/a	n/a
31	MAFK	chr5:152342818-152342865	HepG2	liver:	n/a	n/a
32	MAFK	chr5:152354076-152354321	HepG2	liver:	n/a	chr5:152354209-152354225
33	MAFK	chr5:152349976-152350104	HepG2	liver:	n/a	n/a
34	MAFK	chr5:152342802-152342883	HepG2	liver:	n/a	n/a
35	MAFK	chr5:152358009-152358253	HepG2	liver:	n/a	chr5:152358142-152358158 chr5:152358143-152358154 chr5:152358142-152358153 chr5:152358141-152358155 chr5:152358142-152358153 chr5:152358143-152358154
36	MYC	chr5:152337098-152337191	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr5:152336946-152337035	MCF10A-Er-Src	breast:	n/a	chr5:152336983-152336992
38	POLR2A	chr5:152338267-152338421	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr5:152330289-152330707	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr5:152355150-152355165	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr5:152350699-152350830	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr5:152351526-152351614	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr5:152352804-152353004	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr5:152331574-152331646	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr5:152338647-152338847	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr5:152352189-152352260	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr5:152352971-152352992	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr5:152329711-152329848	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr5:152327591-152327765	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr5:152336816-152337167	MCF10A-Er-Src	breast:	n/a	n/a

(count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:152352468-152352518	AG10803	skin:	n/a
2	chr5:152352697-152352747	HMEC	breast:	n/a
3	chr5:152352468-152352518	AG10803	skin:	n/a
4	chr5:152352697-152352747	HMEC	breast:	n/a
5	chr5:152352468-152352518	NB4	blood:	n/a
6	chr5:152352697-152352747	IMR90	lung:	fetal
7	chr5:152352468-152352518	HIPEpiC	eye:	n/a
8	chr5:152352697-152352747	GM12878	blood:	n/a
9	chr5:152352697-152352747	HCT-116	colon:	n/a
10	chr5:152352697-152352747	NB4	blood:	n/a
11	chr5:152352697-152352747	AG09319	gingival:	n/a
12	chr5:152352468-152352518	HCM	heart:	n/a
13	chr5:152352697-152352747	PANC-1	pancreas:	n/a
14	chr5:152352697-152352747	HRE	kidney:	n/a
15	chr5:152352697-152352747	Jurkat	blood:	n/a
16	chr5:152352468-152352518	ECC-1	luminal epithelium:	n/a
17	chr5:152352697-152352747	NHDF-neo	bronchial:	n/a
18	chr5:152352468-152352518	HepG2	liver:	n/a
19	chr5:152352697-152352747	SK-N-SH	brain:	n/a
20	chr5:152352697-152352747	CMK	blood:	n/a
21	chr5:152352697-152352747	NHBE	bronchial:	n/a
22	chr5:152352468-152352518	AG09319	gingival:	n/a
23	chr5:152352468-152352518	GM06990	blood:	n/a
24	chr5:152352697-152352747	HRCEpiC	kidney:	n/a
25	chr5:152352697-152352747	A549	lung:	n/a
26	chr5:152352697-152352747	K562	blood:	n/a
27	chr5:152352697-152352747	PrEC	prostate:	n/a
28	chr5:152352697-152352747	HRPEpiC	eye:	n/a
29	chr5:152352468-152352518	GM12878	blood:	n/a
30	chr5:152352697-152352747	AoSMC	blood vessel:	n/a
31	chr5:152352697-152352747	U87	brain:	n/a
32	chr5:152352468-152352518	HRPEpiC	eye:	n/a
33	chr5:152352697-152352747	BE2_C	brain:	n/a
34	chr5:152352697-152352747	ovcar-3	ovarian:	n/a
35	chr5:152352697-152352747	HEEpiC	esophagus:	n/a
36	chr5:152352468-152352518	MCF-7	breast:	n/a
37	chr5:152352697-152352747	PFSK-1	brain:	n/a
38	chr5:152352468-152352518	SKMC	muscle:	n/a
39	chr5:152352468-152352518	SK-N-MC	brain:	n/a
40	chr5:152352468-152352518	PANC-1	pancreas:	n/a
41	chr5:152352697-152352747	LNCaP	prostate:	n/a
42	chr5:152352468-152352518	Caco-2	colon:	n/a
43	chr5:152352468-152352518	GM12892	blood:	n/a
44	chr5:152352468-152352518	HEK293	kidney:	embryo
45	chr5:152352697-152352747	RPTEC	kidney:	n/a
46	chr5:152352697-152352747	AG04450	lung:	fetal
47	chr5:152352468-152352518	HUVEC	blood vessel:	n/a
48	chr5:152352697-152352747	GM06990	blood:	n/a
49	chr5:152352697-152352747	H1-hESC	embryonic stem cell:	embryo
50	chr5:152352697-152352747	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:152354651..152356569-chr5:152358890..152361095,2	K562	blood:
2	chr5:152354651..152356569-chr5:152358890..152361095,2	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMUR2-1	chr5:152345801-152345894	ENSG00000249484.4
2	lnc-NMUR2-1	chr5:152351274-152351346	ENSG00000249484.4
3	lnc-NMUR2-1	chr5:152351574-152351793	ENSG00000249484.4
4	lnc-NMUR2-1	chr5:152351574-152351793	XLOC_005056
5	lnc-NMUR2-1	chr5:152351826-152351909	XLOC_005056
6	lnc-NMUR2-1	chr5:152345801-152345909	XLOC_005056
7	lnc-NMUR2-1	chr5:152352638-152352763	XLOC_005056
8	lnc-NMUR2-1	chr5:152345801-152345894	XLOC_005056
9	lnc-NMUR2-1	chr5:152345801-152345894	XLOC_005056
10	lnc-NMUR2-1	chr5:152352638-152352763	ENSG00000249484.4
11	lnc-NMUR2-1	chr5:152345801-152345894	ENSG00000249484
12	lnc-NMUR2-1	chr5:152351826-152351909	ENSG00000249484
13	lnc-NMUR2-1	chr5:152346653-152346666	ENSG00000249484.4
14	lnc-NMUR2-1	chr5:152351274-152351343	XLOC_005056
15	lnc-NMUR2-1	chr5:152351274-152351346	XLOC_005056

No data

Variant related genes	Relation type
ENSG00000249484	TF binding region
ENSG00000249484	CpG island
DICER1	miRNA target sites
FAM122A	miRNA target sites

Extended variants
information (count: 443 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373781859	chr5:152328891-152328892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535518731	chr5:152328893-152328894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547501358	chr5:152328929-152328930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144253980	chr5:152328937-152328938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56117655	chr5:152328969-152328970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558018421	chr5:152328997-152328998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116482283	chr5:152329041-152329042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150649511	chr5:152329043-152329044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555361355	chr5:152329099-152329100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139857560	chr5:152329181-152329182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541096489	chr5:152329209-152329210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559208240	chr5:152329228-152329229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572583423	chr5:152329311-152329312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11439062	chr5:152329326-152329327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546119742	chr5:152329340-152329341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564800208	chr5:152329341-152329342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531865248	chr5:152329376-152329377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550074098	chr5:152329414-152329415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544936439	chr5:152329419-152329420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374387791	chr5:152329426-152329427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72804798	chr5:152329436-152329437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs6579993	chr5:152329479-152329480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs7710377	chr5:152329512-152329513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539612658	chr5:152329513-152329514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551239357	chr5:152329540-152329541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569841084	chr5:152329547-152329548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572959987	chr5:152329578-152329579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372373066	chr5:152329642-152329643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537307369	chr5:152329687-152329688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555720285	chr5:152329696-152329697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567247140	chr5:152329697-152329698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs66786682	chr5:152329730-152329731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185612123	chr5:152329731-152329732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553020665	chr5:152329748-152329749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577709809	chr5:152329771-152329772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545092566	chr5:152329841-152329842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561118228	chr5:152329875-152329876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190533576	chr5:152329882-152329883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559179446	chr5:152329897-152329898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533086557	chr5:152329927-152329928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13182323	chr5:152329944-152329945	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs61565054	chr5:152329958-152329959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541109424	chr5:152329969-152329970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149837245	chr5:152329984-152329985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533228392	chr5:152330044-152330045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574736777	chr5:152330062-152330063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551868973	chr5:152330163-152330164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76597916	chr5:152330167-152330168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530751175	chr5:152330171-152330172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191253409	chr5:152330193-152330194	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152328800-152329000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:152329000-152330800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:152329600-152330600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:152330000-152330600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:152330800-152331200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:152331200-152332400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:152333000-152333600	Enhancers	Liver	Liver
8	chr5:152333600-152334000	Flanking Active TSS	Liver	Liver
9	chr5:152334000-152334200	Enhancers	Liver	Liver
10	chr5:152334200-152337000	Weak transcription	Liver	Liver
11	chr5:152337200-152337400	Enhancers	Liver	Liver
12	chr5:152346000-152346400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:152354200-152355600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:152357200-152357400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:152357800-152358200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:152357800-152358400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:152357800-152358800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:152358000-152358400	Enhancers	Stomach Mucosa	stomach
19	chr5:152358200-152358600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:152359800-152361200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links