Variant report

Variant	nsv968911
Chromosome Location	chr5:50570110-50572356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:50571772-50571936	GM12878	blood:	n/a	n/a
2	CEBPB	chr5:50572053-50572521	ECC-1	luminal epithelium:	n/a	chr5:50572287-50572298
3	CEBPB	chr5:50572129-50572535	ECC-1	luminal epithelium:	n/a	chr5:50572287-50572298
4	CEBPB	chr5:50572120-50572466	A549	lung:	n/a	chr5:50572287-50572298
5	CEBPB	chr5:50572111-50572457	HepG2	liver:	n/a	chr5:50572287-50572298
6	CEBPB	chr5:50572257-50572301	H1-hESC	embryonic stem cell:	n/a	chr5:50572287-50572298
7	CEBPB	chr5:50572100-50572466	Hela-S3	cervix:	n/a	chr5:50572287-50572298
8	CTCF	chr5:50571840-50571990	GM12865	blood:	n/a	n/a
9	CTCF	chr5:50571760-50571910	MCF-7	breast:	n/a	n/a
10	CTCF	chr5:50571716-50572082	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:50571810-50571975	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:50571780-50571930	GM12871	blood:	n/a	n/a
13	CTCF	chr5:50571684-50572144	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:50571800-50572016	MCF-7	breast:	n/a	n/a
15	CTCF	chr5:50571800-50571950	GM12874	blood:	n/a	n/a
16	CTCF	chr5:50571780-50571930	MCF-7	breast:	n/a	n/a
17	EP300	chr5:50572169-50572734	ECC-1	luminal epithelium:	n/a	chr5:50572288-50572302
18	MAZ	chr5:50570860-50570964	HepG2	liver:	n/a	n/a
19	NFIC	chr5:50572058-50572833	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr5:50571104-50571204	Gliobla	brain:	n/a	n/a
21	RAD21	chr5:50571734-50572146	MCF-7	breast:	n/a	chr5:50571735-50571744
22	TEAD4	chr5:50572086-50572752	ECC-1	luminal epithelium:	n/a	n/a
23	TEAD4	chr5:50572169-50572756	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:50258485..50259288-chr5:50571370..50571987,2	MCF-7	breast:
2	chr5:50260308..50260944-chr5:50571869..50572389,2	MCF-7	breast:
3	chr5:50571410..50572428-chr5:50643087..50644166,3	MCF-7	breast:
4	chr5:50572356..50575340-chr5:50576089..50578064,2	MCF-7	breast:
5	chr5:50258512..50259359-chr5:50571455..50572343,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ISL1-2	chr5:50571087-50571568	NONHSAT101386

Variant related genes	Relation type
ENSG00000240627	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373362059	chr5:50570135-50570136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185884112	chr5:50570157-50570158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558904468	chr5:50570196-50570197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190310068	chr5:50570214-50570215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542571106	chr5:50570227-50570228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147580383	chr5:50570246-50570247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182025695	chr5:50570276-50570277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185746508	chr5:50570299-50570300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564682421	chr5:50570395-50570396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533346836	chr5:50570405-50570406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543563119	chr5:50570464-50570465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149052822	chr5:50570506-50570507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190109703	chr5:50570560-50570561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77000469	chr5:50570584-50570585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566048149	chr5:50570645-50570646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143051455	chr5:50570708-50570709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551901133	chr5:50570717-50570718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377743466	chr5:50570782-50570783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537549818	chr5:50570884-50570885	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs370863958	chr5:50570885-50570886	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs79501030	chr5:50570897-50570898	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs181050973	chr5:50570900-50570901	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs536526700	chr5:50570916-50570917	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs553029511	chr5:50570939-50570940	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112265465	chr5:50570941-50570942	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201954922	chr5:50571025-50571026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375021116	chr5:50571050-50571051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145509002	chr5:50571083-50571084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574954590	chr5:50571084-50571085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543919641	chr5:50571087-50571088	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs138048034	chr5:50571089-50571090	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs574185618	chr5:50571127-50571128	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs543295740	chr5:50571137-50571138	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs368331015	chr5:50571155-50571156	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs10939904	chr5:50571182-50571183	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185428933	chr5:50571197-50571198	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs191211275	chr5:50571258-50571259	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs530997351	chr5:50571271-50571272	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs541633578	chr5:50571292-50571293	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs10471515	chr5:50571293-50571294	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs550826044	chr5:50571301-50571302	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs567440350	chr5:50571331-50571332	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs575102280	chr5:50571341-50571342	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs182484801	chr5:50571345-50571346	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs566386077	chr5:50571353-50571354	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs10471516	chr5:50571372-50571373	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558097462	chr5:50571380-50571381	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs574917340	chr5:50571383-50571384	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs537929477	chr5:50571388-50571389	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs554406280	chr5:50571401-50571402	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Chronic lymphocytic leukemia	21546498	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	18641027	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50567200-50574400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:50569200-50574200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:50569800-50574400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:50570000-50574200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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