Variant report

Variant	rs12133310
Chromosome Location	chr1:176182575-176182576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:176178997..176181795-chr1:176182441..176184646,3	MCF-7	breast:
2	chr1:176182002..176183788-chr1:176187433..176190030,2	K562	blood:
3	chr1:176175244..176178958-chr1:176179061..176187498,12	MCF-7	breast:
4	chr1:176182122..176184952-chr1:176354424..176356281,2	K562	blood:

Variant related genes	Relation type
ENSG00000143207	Chromatin interaction
ENSG00000236021	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494497	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12116561	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12121832	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12124916	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12125328	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12127204	1.00[CEU][hapmap]
rs12127719	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12128099	1.00[CEU][hapmap]
rs12128327	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12129466	0.82[EUR][1000 genomes]
rs12129873	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12132072	1.00[CEU][hapmap]
rs12133701	0.86[EUR][1000 genomes]
rs12134392	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12134984	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12135045	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12137136	0.83[EUR][1000 genomes]
rs12142010	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12142461	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12143425	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12144612	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12144692	0.81[EUR][1000 genomes]
rs12144806	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12145703	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12145778	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12146072	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1330863	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4400573	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56230548	0.86[EUR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr1:176177600-176198600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:176178200-176189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:176178200-176193800	Weak transcription	Pancreas	Pancrea

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