Variant report

Variant	nsv960821
Chromosome Location	chr19:24140521-24142113
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	CTCF	chr19:24140580-24140730	BJ	skin:	n/a	n/a
2	CTCF	chr19:24140680-24140830	HMF	breast:	n/a	chr19:24140813-24140822 chr19:24140815-24140825
3	CTCF	chr19:24140660-24140810	NHDF-neo	bronchial:	n/a	n/a
4	CTCF	chr19:24140680-24140830	WI-38	lung:	n/a	chr19:24140813-24140822 chr19:24140815-24140825
5	CTCF	chr19:24140640-24140790	HFF-Myc	foreskin:	n/a	n/a
6	CTCF	chr19:24140640-24140790	AG10803	skin:	n/a	n/a
7	CTCF	chr19:24140700-24140850	SAEC	small airway:	n/a	chr19:24140813-24140822 chr19:24140815-24140825
8	CTCF	chr19:24140760-24140910	HEK293	kidney:	n/a	chr19:24140813-24140822 chr19:24140815-24140825
9	CTCF	chr19:24140620-24140770	HVMF	connective:	n/a	n/a
10	CTCF	chr19:24140820-24140970	HMF	breast:	n/a	n/a
11	CTCF	chr19:24140700-24140850	HCPEpiC	choroid plexus:	n/a	chr19:24140813-24140822 chr19:24140815-24140825
12	CTCF	chr19:24140700-24140850	NHDF-neo	bronchial:	n/a	chr19:24140813-24140822 chr19:24140815-24140825
13	CTCF	chr19:24140934-24141042	GM20000	blood:	n/a	n/a
14	CTCF	chr19:24140920-24141070	NHDF-neo	bronchial:	n/a	n/a
15	E2F4	chr19:24140529-24140801	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr19:24140399-24140765	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr19:24140386-24140685	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr19:24140373-24140811	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr19:24140413-24140765	MCF10A-Er-Src	breast:	n/a	n/a
20	FOSL2	chr19:24140412-24140790	MCF-7	breast:	n/a	n/a
21	FOSL2	chr19:24140302-24140815	SK-N-SH	brain:	n/a	n/a
22	FOXA1	chr19:24140629-24141053	T-47D	breast:	n/a	n/a
23	FOXA1	chr19:24140624-24141160	T-47D	breast:	n/a	n/a
24	GABPA	chr19:24140466-24140750	Hela-S3	cervix:	n/a	n/a
25	GATA3	chr19:24140613-24141057	T-47D	breast:	n/a	n/a
26	JUN	chr19:24140486-24140581	HepG2	liver:	n/a	n/a
27	JUND	chr19:24140389-24140726	HepG2	liver:	n/a	chr19:24140550-24140561
28	JUND	chr19:24140473-24140854	SK-N-SH	brain:	n/a	chr19:24140550-24140561
29	JUND	chr19:24140118-24140851	SK-N-SH	brain:	n/a	chr19:24140550-24140561 chr19:24140165-24140173 chr19:24140162-24140170
30	KAP1	chr19:24140303-24140832	U2OS	brain:	n/a	n/a
31	KAP1	chr19:24140420-24140864	HEK293	kidney:	n/a	n/a
32	POLR2A	chr19:24140956-24141147	MCF-7	breast:	n/a	n/a
33	POLR2A	chr19:24140649-24140652	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr19:24140371-24140863	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr19:24140123-24140813	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr19:24140414-24140626	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr19:24140405-24140742	MCF10A-Er-Src	breast:	n/a	n/a
38	TCF7L2	chr19:24140482-24140661	PANC-1	pancreas:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF681-2	chr19:24140533-24140732	ENSG00000104777
2	lnc-ZNF681-2	chr19:24140533-24141028	NONHSAT063949

Variant related genes	Relation type
ENSG00000269289	TF binding region
RALB	miRNA target sites

Extended variants
information (count: 58 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544394623	chr19:24140534-24140535	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs143236623	chr19:24140547-24140548	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs530115042	chr19:24140549-24140550	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs186768717	chr19:24140569-24140570	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs574773038	chr19:24140572-24140573	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs537419020	chr19:24140578-24140579	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs191902072	chr19:24140584-24140585	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs10407180	chr19:24140613-24140614	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs546828172	chr19:24140616-24140617	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs571440173	chr19:24140617-24140618	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs532381332	chr19:24140636-24140637	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs183299234	chr19:24140640-24140641	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs557730350	chr19:24140648-24140649	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs187788689	chr19:24140662-24140663	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs193174948	chr19:24140667-24140668	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs536315443	chr19:24140675-24140676	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs554275341	chr19:24140676-24140677	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs566027715	chr19:24140704-24140705	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs577600899	chr19:24140784-24140785	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs185031808	chr19:24140792-24140793	Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs533549202	chr19:24140855-24140856	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs376654025	chr19:24140878-24140879	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs559244087	chr19:24140907-24140908	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs577108330	chr19:24140910-24140911	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs544434518	chr19:24140913-24140914	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs115336068	chr19:24140933-24140934	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs189456069	chr19:24140959-24140960	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs148310148	chr19:24140963-24140964	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs192408012	chr19:24140967-24140968	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs16982949	chr19:24140971-24140972	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs545861708	chr19:24140986-24140987	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs565205824	chr19:24140994-24140995	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs111325626	chr19:24141001-24141002	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs183764333	chr19:24141018-24141019	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs548032324	chr19:24141071-24141072	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs188194916	chr19:24141090-24141091	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs10407092	chr19:24141092-24141093	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs180686037	chr19:24141096-24141097	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs77111022	chr19:24141109-24141110	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs566433745	chr19:24141151-24141152	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs375757976	chr19:24141169-24141170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138457027	chr19:24141246-24141247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184977822	chr19:24141252-24141253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112474646	chr19:24141284-24141285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559703349	chr19:24141303-24141304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370093429	chr19:24141352-24141353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79602420	chr19:24141373-24141374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373594559	chr19:24141403-24141404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573358979	chr19:24141407-24141408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556348659	chr19:24141424-24141425	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24140200-24140800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:24140200-24141400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr19:24140400-24141000	Flanking Active TSS	Ovary	ovary
4	chr19:24140800-24141400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:24141000-24141800	Enhancers	Ovary	ovary
6	chr19:24141400-24141600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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