Variant report

Variant	rs73492424
Chromosome Location	chr11:65512472-65512473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:65511664-65512573	HCT-116	colon:	n/a	n/a
2	CTCF	chr11:65511737-65512559	A549	lung:	n/a	n/a
3	SMC3	chr11:65511751-65512936	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr11:65511728-65513461	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr11:65511436-65513259	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr11:65511877-65512487	HCT-116	colon:	n/a	n/a
7	RAD21	chr11:65511751-65513178	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr11:65512440-65512590	BE2_C	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65510782..65513153-chr11:65513586..65515481,2	K562	blood:
2	chr11:65511343..65512591-chr11:65585351..65586294,10	MCF-7	breast:
3	chr11:65509847..65512521-chr11:65541079..65543934,2	K562	blood:
4	chr11:65511597..65512884-chr11:65585147..65586477,30	MCF-7	breast:
5	chr11:65511713..65512488-chr11:65756361..65757355,2	MCF-7	breast:
6	chr11:65511399..65513092-chr11:65547173..65549839,3	MCF-7	breast:
7	chr11:65511623..65512514-chr11:65547091..65548129,3	MCF-7	breast:
8	chr11:65511419..65513078-chr11:65625541..65627932,2	MCF-7	breast:
9	chr11:65511937..65512528-chr11:65537362..65537959,2	MCF-7	breast:
10	chr11:65511963..65512619-chr11:65537012..65537973,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255557	TF binding region
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000254470	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1048924	1.00[EUR][1000 genomes]
rs1078458	1.00[EUR][1000 genomes]
rs10896054	1.00[EUR][1000 genomes]
rs1151504	1.00[EUR][1000 genomes]
rs1151520	1.00[EUR][1000 genomes]
rs1194099	1.00[EUR][1000 genomes]
rs12275175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12283972	1.00[EUR][1000 genomes]
rs12294096	1.00[EUR][1000 genomes]
rs12294241	1.00[EUR][1000 genomes]
rs12294549	1.00[EUR][1000 genomes]
rs12721573	1.00[EUR][1000 genomes]
rs1647569	1.00[EUR][1000 genomes]
rs34035680	1.00[EUR][1000 genomes]
rs35194319	1.00[EUR][1000 genomes]
rs500667	1.00[EUR][1000 genomes]
rs508328	1.00[EUR][1000 genomes]
rs548709	1.00[EUR][1000 genomes]
rs551115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs551986	1.00[EUR][1000 genomes]
rs56663613	1.00[EUR][1000 genomes]
rs56798161	0.81[AFR][1000 genomes]
rs56990327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs601314	1.00[EUR][1000 genomes]
rs604630	1.00[EUR][1000 genomes]
rs613953	1.00[EUR][1000 genomes]
rs614330	1.00[EUR][1000 genomes]
rs641323	1.00[EUR][1000 genomes]
rs669300	1.00[EUR][1000 genomes]
rs7106444	1.00[EUR][1000 genomes]
rs7107453	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7115662	1.00[EUR][1000 genomes]
rs7124858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72556578	1.00[EUR][1000 genomes]
rs73492420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492432	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7934992	1.00[EUR][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	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv983035	chr11:65494712-65529501	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65511400-65513000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:65511600-65512800	Enhancers	Spleen	Spleen
3	chr11:65511600-65513000	Enhancers	Placenta	Placenta
4	chr11:65511800-65514200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:65512000-65512800	Bivalent/Poised TSS	HepG2	liver
6	chr11:65512200-65513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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