Variant report

Variant	rs12060217
Chromosome Location	chr1:166600374-166600375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166599816..166602307-chr1:166602461..166604942,2	K562	blood:
2	chr1:166598318..166601316-chr1:166603442..166605798,2	K562	blood:
3	chr1:166598376..166600400-chr1:166600678..166602405,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10494465	0.97[ASN][1000 genomes]
rs10918537	0.97[ASN][1000 genomes]
rs10918538	0.98[ASN][1000 genomes]
rs10918540	1.00[ASN][1000 genomes]
rs10918541	1.00[ASN][1000 genomes]
rs11584519	0.87[ASN][1000 genomes]
rs12027513	0.91[ASN][1000 genomes]
rs12030491	0.89[ASN][1000 genomes]
rs12033500	0.81[ASN][1000 genomes]
rs12036000	0.89[ASN][1000 genomes]
rs12037515	0.98[ASN][1000 genomes]
rs12037521	0.98[ASN][1000 genomes]
rs12039131	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12059082	0.92[ASN][1000 genomes]
rs12093588	0.98[ASN][1000 genomes]
rs12097049	0.97[ASN][1000 genomes]
rs1442501	0.97[ASN][1000 genomes]
rs1583978	0.97[ASN][1000 genomes]
rs16857503	0.97[ASN][1000 genomes]
rs17470581	0.97[ASN][1000 genomes]
rs1837937	0.98[ASN][1000 genomes]
rs2028560	0.97[ASN][1000 genomes]
rs2119901	0.98[ASN][1000 genomes]
rs2311231	0.98[ASN][1000 genomes]
rs35225454	0.97[ASN][1000 genomes]
rs35720927	0.95[ASN][1000 genomes]
rs6427019	0.98[ASN][1000 genomes]
rs6427020	0.98[ASN][1000 genomes]
rs6427021	0.94[ASN][1000 genomes]
rs6670455	1.00[ASN][1000 genomes]
rs6677448	0.96[ASN][1000 genomes]
rs72701363	0.81[ASN][1000 genomes]
rs7546913	1.00[ASN][1000 genomes]
rs7548967	0.81[ASN][1000 genomes]
rs981409	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2757759	chr1:166491879-166650985	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2758975	chr1:166491879-166650985	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2756869	chr1:166543542-166601778	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv872519	chr1:166545275-166616786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv872518	chr1:166545275-166623180	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv34401	chr1:166546342-166617601	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv548098	chr1:166595209-166623180	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166596000-166601600	Weak transcription	K562	blood

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