Variant report

Variant	rs73050569
Chromosome Location	chr3:23842486-23842487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:23842360-23842510	AG10803	skin:	n/a	n/a
2	CTCF	chr3:23842400-23842550	RPTEC	kidney:	n/a	n/a
3	CTCF	chr3:23842460-23842610	HEEpiC	esophagus:	n/a	n/a
4	RAD21	chr3:23842194-23842605	GM12878	blood:	n/a	n/a
5	CTCF	chr3:23842248-23842597	IMR90	lung:	n/a	n/a
6	CTCF	chr3:23842319-23842511	MCF-7	breast:	n/a	n/a
7	CTCF	chr3:23842261-23842503	A549	lung:	n/a	n/a
8	CTCF	chr3:23842329-23842521	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr3:23842215-23842554	K562	blood:	n/a	n/a
10	CTCF	chr3:23842420-23842570	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr3:23842373-23842505	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:23842400-23842550	GM12865	blood:	n/a	n/a
13	RAD21	chr3:23842213-23842579	GM12878	blood:	n/a	n/a
14	CTCF	chr3:23842351-23842517	LNCaP	prostate:	n/a	n/a
15	RAD21	chr3:23842114-23842668	HCT-116	colon:	n/a	n/a
16	RAD21	chr3:23842160-23842519	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr3:23842352-23842502	Gliobla	brain:	n/a	n/a
18	CTCF	chr3:23842366-23842488	LNCaP	prostate:	n/a	n/a
19	CTCF	chr3:23842328-23842500	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr3:23842219-23842608	GM12878	blood:	n/a	n/a
21	CTCF	chr3:23842036-23842750	A549	lung:	n/a	n/a
22	CTCF	chr3:23842340-23842490	HPF	lung:	n/a	n/a
23	CTCF	chr3:23842340-23842490	HMF	breast:	n/a	n/a
24	CTCF	chr3:23842280-23842573	A549	lung:	n/a	n/a
25	RAD21	chr3:23842181-23842643	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr3:23842360-23842510	HPAF	blood vessel:	n/a	n/a
27	RAD21	chr3:23842185-23842598	Hela-S3	cervix:	n/a	n/a
28	RAD21	chr3:23842229-23842510	GM12878	blood:	n/a	n/a
29	CTCF	chr3:23842400-23842550	GM12871	blood:	n/a	n/a
30	CTCF	chr3:23842340-23842490	HVMF	connective:	n/a	n/a
31	CTCF	chr3:23842340-23842490	WI-38	lung:	n/a	n/a
32	CBX3	chr3:23842142-23842583	HCT-116	colon:	n/a	n/a
33	CTCF	chr3:23842360-23842510	AG09309	skin:	n/a	n/a
34	CTCF	chr3:23842340-23842490	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr3:23842018-23842665	SK-N-SH	brain:	n/a	n/a
36	SMC3	chr3:23842224-23842561	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr3:23842360-23842510	Caco-2	colon:	n/a	n/a
38	CTCF	chr3:23842380-23842530	GM12873	blood:	n/a	n/a
39	RAD21	chr3:23841813-23842761	SK-N-SH	brain:	n/a	n/a
40	CTCF	chr3:23842340-23842490	GM12875	blood:	n/a	n/a
41	CTCF	chr3:23842380-23842530	AG10803	skin:	n/a	n/a
42	CTCF	chr3:23842360-23842510	AG04449	skin:	n/a	n/a
43	MAX	chr3:23842235-23842565	NB4	blood:	n/a	chr3:23842409-23842419 chr3:23842386-23842396
44	CTCF	chr3:23842186-23842677	HCT-116	colon:	n/a	n/a
45	CTCF	chr3:23842340-23842490	HAc	cerebellar:	n/a	n/a
46	CTCF	chr3:23842333-23842491	GM10266	blood:	n/a	n/a
47	CTCF	chr3:23842380-23842530	GM12872	blood:	n/a	n/a
48	RAD21	chr3:23842140-23842587	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr3:23842380-23842530	HCPEpiC	choroid plexus:	n/a	n/a
50	RAD21	chr3:23842290-23842494	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23224961..23225741-chr3:23841911..23842898,2	MCF-7	breast:
2	chr3:23689967..23690811-chr3:23841951..23842865,3	MCF-7	breast:
3	chr3:23842099..23844971-chr3:23957732..23960205,2	MCF-7	breast:
4	chr3:23837604..23842638-chr3:23843471..23851742,9	K562	blood:
5	chr3:23841596..23843392-chr3:23851322..23853304,2	MCF-7	breast:

No data

Variant related genes	Relation type
UBE2E1	TF binding region
ENSG00000174748	Chromatin interaction
ENSG00000170142	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000223791	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55682000	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55712541	1.00[AFR][1000 genomes]
rs55881337	0.90[AMR][1000 genomes]
rs55904513	1.00[AFR][1000 genomes]
rs56124199	0.90[AMR][1000 genomes]
rs67359791	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73050544	0.90[AMR][1000 genomes]
rs73050546	0.90[AMR][1000 genomes]
rs73050548	0.90[AMR][1000 genomes]
rs73050549	0.90[AMR][1000 genomes]
rs73050553	0.90[AMR][1000 genomes]
rs73050556	0.90[AMR][1000 genomes]
rs73050559	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834637	chr3:23703928-23886144	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23840000-23847000	Weak transcription	Right Atrium	heart
2	chr3:23840200-23846800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:23840200-23846800	Weak transcription	GM12878-XiMat	blood

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