Variant report

Variant	rs1992608
Chromosome Location	chr12:40905168-40905169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40882994..40885029-chr12:40904694..40907438,2	K562	blood:
2	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1122621	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1122863	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11835808	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11837316	0.82[AFR][1000 genomes]
rs1492328	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1492329	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17128391	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17128416	0.81[EUR][1000 genomes]
rs17598156	0.81[EUR][1000 genomes]
rs4768288	0.81[EUR][1000 genomes]
rs4768289	0.81[EUR][1000 genomes]
rs55642775	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55649806	0.82[EUR][1000 genomes]
rs55818225	0.80[EUR][1000 genomes]
rs56036709	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56211973	0.80[EUR][1000 genomes]
rs56226314	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56952712	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57161116	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59005564	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59095251	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59367732	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73106618	0.81[EUR][1000 genomes]
rs73106620	0.81[EUR][1000 genomes]
rs73112007	0.80[EUR][1000 genomes]
rs73112026	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73114281	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73116206	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73119908	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3519672	chr12:40898422-40907859	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3519673	chr12:40898984-40905196	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3519675	chr12:40898984-40905196	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv512268	chr12:40899000-40905722	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3417437	chr12:40900070-40907460	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv8970	chr12:40904094-40951213	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40894800-40908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40904600-40905800	Enhancers	GM12878-XiMat	blood

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