Variant report

Variant	rs73278920
Chromosome Location	chr12:11641636-11641637
allele	A/G
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	chr12:11641402-11641690	GM12878	blood:	n/a	n/a
2	CTCF	chr12:11641500-11641650	GM12874	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255790	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16933841	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933848	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795544	1.00[AMR][1000 genomes]
rs1795545	1.00[AMR][1000 genomes]
rs1795546	1.00[AMR][1000 genomes]
rs59368327	1.00[AMR][1000 genomes]
rs59748838	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59982037	1.00[AMR][1000 genomes]
rs60348652	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60749635	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488410	1.00[AMR][1000 genomes]
rs6488411	1.00[AMR][1000 genomes]
rs6488420	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488421	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488422	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488423	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7134032	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7305372	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7306390	1.00[AMR][1000 genomes]
rs7313071	1.00[AMR][1000 genomes]
rs73277091	1.00[AMR][1000 genomes]
rs73278929	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971836	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs888126	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv557572	chr12:11575570-11693121	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469112	chr12:11575570-11711690	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv557573	chr12:11575570-11711690	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11640200-11652000	Weak transcription	Brain Angular Gyrus	brain

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