Variant report

Variant	rs12830962
Chromosome Location	chr12:33332808-33332809
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:33332688..33334476-chr12:33590436..33592933,2	MCF-7	breast:
2	chr12:33330756..33333528-chr12:33336266..33338404,2	K562	blood:

Variant related genes	Relation type
ENSG00000110975	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11052578	0.81[EUR][1000 genomes]
rs12811328	0.83[AMR][1000 genomes]
rs12813479	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12814596	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12815360	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12816246	0.90[EUR][1000 genomes]
rs12819954	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12820466	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12821548	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12821754	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12827254	0.83[AMR][1000 genomes]
rs12827744	0.83[AMR][1000 genomes]
rs12827859	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12830581	0.83[AMR][1000 genomes]
rs17553487	0.83[AMR][1000 genomes]
rs17555730	1.00[AFR][1000 genomes]
rs34018607	0.83[AMR][1000 genomes]
rs34166270	0.90[EUR][1000 genomes]
rs34234620	0.83[AMR][1000 genomes]
rs34382986	0.81[EUR][1000 genomes]
rs34390674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34398102	0.83[AMR][1000 genomes]
rs34411183	1.00[AFR][1000 genomes]
rs34461395	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34506464	0.83[AMR][1000 genomes]
rs34617614	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34777911	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34787755	0.85[EUR][1000 genomes]
rs34975039	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35144121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35151039	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35398283	0.83[AMR][1000 genomes]
rs35417019	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35472257	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35506599	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35607659	0.83[AMR][1000 genomes]
rs35653702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35681913	0.83[AMR][1000 genomes]
rs35714469	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35760728	0.83[AMR][1000 genomes]
rs35846513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35848741	0.83[AMR][1000 genomes]
rs35895521	1.00[AMR][1000 genomes]
rs36042953	0.83[AMR][1000 genomes]
rs4931714	0.81[EUR][1000 genomes]
rs68189829	0.81[EUR][1000 genomes]
rs71457671	0.83[AMR][1000 genomes]
rs71457675	0.83[AMR][1000 genomes]
rs71457678	0.83[AMR][1000 genomes]
rs71457684	0.83[AMR][1000 genomes]
rs71457691	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71457692	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71457696	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71457699	1.00[AFR][1000 genomes];0.85[EUR][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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv558218	chr12:33302438-33334261	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1037459	chr12:33310703-33905662	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv541459	chr12:33310703-33905662	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1054927	chr12:33325003-33379954	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv519988	chr12:33332749-33337457	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 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	chr12:33331600-33334600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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