Variant report

Variant	rs34418975
Chromosome Location	chr12:29341171-29341172
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	chr1:11967955..11968537-chr12:29341132..29341632,2	MCF-7	breast:
2	chr1:11967855..11969435-chr12:29341152..29342652,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199347	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12301160	1.00[ASN][1000 genomes]
rs12320760	1.00[ASN][1000 genomes]
rs12813343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12815733	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12817351	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12826306	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34158620	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34270636	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34339523	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34492685	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34601700	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34825983	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34941964	0.87[AMR][1000 genomes]
rs34990495	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35002558	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35018848	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35054952	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35071007	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35100017	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35121122	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35199330	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35244320	0.85[AFR][1000 genomes]
rs35736217	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35763553	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35773649	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35861754	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs67550947	1.00[ASN][1000 genomes]
rs71453726	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs71453728	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs71453729	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7307362	0.88[AFR][1000 genomes]
rs7315584	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7971655	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29325400-29364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:29325600-29344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:29328800-29354200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:29336000-29344200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:29336000-29354000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:29341000-29341400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:29341000-29343800	Weak transcription	Left Ventricle	heart

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