Variant report

Variant	rs4875428
Chromosome Location	chr8:4854554-4854555
allele	A/C
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	chr8:4854494-4855051	GM12878	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
4	RAD21	chr8:4854363-4854998	A549	lung:	n/a	chr8:4854699-4854718
5	CTCF	chr8:4854507-4854767	A549	lung:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
6	SMC3	chr8:4854534-4854926	HepG2	liver:	n/a	chr8:4854703-4854717
7	CTCF	chr8:4854520-4854670	WI-38	lung:	n/a	n/a
8	RAD21	chr8:4854454-4854895	HepG2	liver:	n/a	chr8:4854699-4854718
9	RAD21	chr8:4854479-4854970	HCT-116	colon:	n/a	chr8:4854699-4854718
10	SMC3	chr8:4854503-4854972	Hela-S3	cervix:	n/a	chr8:4854703-4854717
11	CTCF	chr8:4854550-4854794	A549	lung:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
12	CEBPB	chr8:4854548-4855073	Hela-S3	cervix:	n/a	n/a
13	RAD21	chr8:4854396-4854920	ECC-1	luminal epithelium:	n/a	chr8:4854699-4854718
14	CTCF	chr8:4854514-4854812	K562	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
15	RAD21	chr8:4854480-4854942	Hela-S3	cervix:	n/a	chr8:4854699-4854718
16	RAD21	chr8:4854546-4854954	SK-N-SH_RA	brain:	n/a	chr8:4854699-4854718
17	CTCF	chr8:4854217-4854968	SK-N-SH	brain:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
18	CTCF	chr8:4854514-4854884	K562	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
19	TEAD4	chr8:4854523-4854941	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr8:4854413-4854940	MCF-7	breast:	n/a	chr8:4854699-4854718
21	CTCF	chr8:4854513-4854893	IMR90	lung:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
22	SMC3	chr8:4854529-4854896	K562	blood:	n/a	chr8:4854703-4854717
23	RFX5	chr8:4854487-4855080	SK-N-SH	brain:	n/a	n/a
24	ARID3A	chr8:4854470-4854864	HepG2	liver:	n/a	n/a
25	RAD21	chr8:4854497-4854800	GM12878	blood:	n/a	chr8:4854699-4854718
26	RAD21	chr8:4854506-4854896	HepG2	liver:	n/a	chr8:4854699-4854718
27	RAD21	chr8:4854418-4855053	H1-hESC	embryonic stem cell:	n/a	chr8:4854699-4854718
28	CTCF	chr8:4854265-4855035	A549	lung:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
29	CTCF	chr8:4854460-4854610	A549	lung:	n/a	n/a
30	RAD21	chr8:4854536-4854969	HCT-116	colon:	n/a	chr8:4854699-4854718
31	SMC3	chr8:4854528-4854884	GM12878	blood:	n/a	chr8:4854703-4854717
32	RAD21	chr8:4854526-4854882	K562	blood:	n/a	chr8:4854699-4854718
33	ZNF143	chr8:4854545-4854890	GM12878	blood:	n/a	n/a
34	CTCF	chr8:4854479-4854855	H1-hESC	embryonic stem cell:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
35	CTCF	chr8:4854485-4854892	K562	blood:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
36	CTCF	chr8:4854488-4854812	MCF-7	breast:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
37	RAD21	chr8:4854518-4854828	SK-N-SH_RA	brain:	n/a	chr8:4854699-4854718
38	RAD21	chr8:4854510-4854879	IMR90	lung:	n/a	chr8:4854699-4854718
39	SMC3	chr8:4854523-4854980	SK-N-SH	brain:	n/a	chr8:4854703-4854717
40	RAD21	chr8:4854505-4854902	GM12878	blood:	n/a	chr8:4854699-4854718
41	CTCF	chr8:4854536-4854796	ECC-1	luminal epithelium:	n/a	chr8:4854696-4854717 chr8:4854701-4854719 chr8:4854702-4854718
42	RAD21	chr8:4854477-4854949	ECC-1	luminal epithelium:	n/a	chr8:4854699-4854718
43	RAD21	chr8:4854419-4854970	H1-hESC	embryonic stem cell:	n/a	chr8:4854699-4854718
44	RAD21	chr8:4854547-4854884	A549	lung:	n/a	chr8:4854699-4854718
45	RAD21	chr8:4854279-4855001	SK-N-SH	brain:	n/a	chr8:4854699-4854718
46	RAD21	chr8:4854370-4854912	HepG2	liver:	n/a	chr8:4854699-4854718
47	CUX1	chr8:4854458-4854792	K562	blood:	n/a	chr8:4854553-4854567 chr8:4854552-4854561
48	RAD21	chr8:4854485-4855008	A549	lung:	n/a	chr8:4854699-4854718
49	WRNIP1	chr8:4854431-4854788	GM12878	blood:	n/a	n/a
50	CTCF	chr8:4854455-4854819	HepG2	liver:	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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13264407	0.86[AFR][1000 genomes]
rs6558956	0.86[AFR][1000 genomes]

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:8 , 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	chr8:4853400-4854600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:4854000-4854800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:4854200-4855200	Enhancers	Brain Angular Gyrus	brain
5	chr8:4854400-4854600	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet
6	chr8:4854400-4855000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr8:4854400-4855000	Enhancers	Brain Substantia Nigra	brain
8	chr8:4854400-4855200	Enhancers	Fetal Brain Male	brain

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