Variant report

Variant	rs13258018
Chromosome Location	chr8:4854637-4854638
allele	A/T
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	RAD21	chr8:4854526-4854795	GM12878	blood:	n/a	chr8:4854699-4854718
2	RAD21	chr8:4854469-4855227	H1-hESC	embryonic stem cell:	n/a	chr8:4854699-4854718
3	CTCF	chr8:4854606-4854814	GM20000	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
4	CTCF	chr8:4854558-4854843	MCF-7	breast:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
5	CTCF	chr8:4854494-4855051	GM12878	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
6	CTCF	chr8:4854593-4854786	SK-N-SH_RA	brain:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
7	CTCF	chr8:4854620-4854770	HPAF	blood vessel:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
8	RAD21	chr8:4854363-4854998	A549	lung:	n/a	chr8:4854699-4854718
9	CTCF	chr8:4854507-4854767	A549	lung:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
10	CTCF	chr8:4854584-4854844	K562	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
11	SMC3	chr8:4854534-4854926	HepG2	liver:	n/a	chr8:4854703-4854717
12	CTCF	chr8:4854600-4854750	HAc	cerebellar:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
13	CTCF	chr8:4854520-4854670	WI-38	lung:	n/a	n/a
14	CTCF	chr8:4854584-4854845	Spleen_OC	spleen:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
15	CTCF	chr8:4854596-4854751	A549	lung:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
16	RAD21	chr8:4854454-4854895	HepG2	liver:	n/a	chr8:4854699-4854718
17	CTCF	chr8:4854620-4854770	GM12874	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
18	CTCF	chr8:4854620-4854770	BJ	skin:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
19	RAD21	chr8:4854479-4854970	HCT-116	colon:	n/a	chr8:4854699-4854718
20	CTCF	chr8:4854620-4854770	HMF	breast:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
21	CTCF	chr8:4854599-4854844	LNCaP	prostate:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
22	SMC3	chr8:4854503-4854972	Hela-S3	cervix:	n/a	chr8:4854703-4854717
23	CTCF	chr8:4854550-4854794	A549	lung:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
24	CEBPB	chr8:4854548-4855073	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr8:4854592-4854879	GM10266	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
26	CTCF	chr8:4854587-4854796	HepG2	liver:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
27	CTCF	chr8:4854620-4854770	Caco-2	colon:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
28	CTCF	chr8:4854600-4854750	K562	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
29	MAZ	chr8:4854636-4854846	K562	blood:	n/a	n/a
30	CTCF	chr8:4854603-4854834	NHEK	skin:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
31	CTCF	chr8:4854572-4854855	GM12878	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
32	RAD21	chr8:4854396-4854920	ECC-1	luminal epithelium:	n/a	chr8:4854699-4854718
33	CTCF	chr8:4854585-4854754	A549	lung:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
34	CTCF	chr8:4854615-4854854	A549	lung:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
35	RAD21	chr8:4854594-4854923	MCF-7	breast:	n/a	chr8:4854699-4854718
36	CTCF	chr8:4854580-4854849	K562	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
37	CTCF	chr8:4854620-4854770	GM12872	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
38	CTCF	chr8:4854620-4854770	HEK293	kidney:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
39	ZNF143	chr8:4854560-4854823	K562	blood:	n/a	n/a
40	CTCF	chr8:4854592-4854832	Hela-S3	cervix:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
41	CTCF	chr8:4854589-4854873	H1-hESC	embryonic stem cell:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
42	CTCF	chr8:4854620-4854770	AG04450	lung:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
43	CTCF	chr8:4854620-4854770	GM12864	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
44	CTCF	chr8:4854592-4854842	GM10248	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
45	CTCF	chr8:4854514-4854812	K562	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
46	CTCF	chr8:4854600-4854750	Caco-2	colon:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
47	RAD21	chr8:4854480-4854942	Hela-S3	cervix:	n/a	chr8:4854699-4854718
48	RAD21	chr8:4854546-4854954	SK-N-SH_RA	brain:	n/a	chr8:4854699-4854718
49	CTCF	chr8:4854620-4854770	HPF	lung:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
50	CTCF	chr8:4854217-4854968	SK-N-SH	brain:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:4695059..4696118-chr8:4854167..4855161,8	MCF-7	breast:

Variant related genes	Relation type
CSMD1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10101065	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12547604	0.89[AMR][1000 genomes]
rs3886808	0.90[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv889978	chr8:4853197-5460166	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4853000-4855200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:4854000-4854800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:4854200-4855200	Enhancers	Brain Angular Gyrus	brain
4	chr8:4854400-4855000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:4854400-4855000	Enhancers	Brain Substantia Nigra	brain
6	chr8:4854400-4855200	Enhancers	Fetal Brain Male	brain
7	chr8:4854600-4855000	Enhancers	Brain Inferior Temporal Lobe	brain

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