Variant report

Variant	rs17097509
Chromosome Location	chr12:47424818-47424819
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47424729..47426911-chr12:47456860..47459530,2	MCF-7	breast:
2	chr12:47423549..47426668-chr12:47427215..47430937,3	K562	blood:
3	chr12:47424715..47431022-chr12:47469878..47476557,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139211	Chromatin interaction
ENSG00000179715	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12581646	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17097455	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097462	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097467	1.00[CEU][hapmap]
rs17097469	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097470	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097492	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097496	0.97[ASN][1000 genomes]
rs17097506	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17097566	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56963010	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57263012	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58387327	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59050709	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59867714	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60211673	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60621077	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60791193	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61228569	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7294950	0.98[ASN][1000 genomes]
rs7298969	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73282808	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73282816	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73282837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73287114	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73287116	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73287955	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73299374	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965639	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7976836	0.97[ASN][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	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47418000-47428400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:47418400-47426600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:47419200-47426600	Weak transcription	Osteobl	bone
4	chr12:47423600-47426600	Weak transcription	Hela-S3	cervix
5	chr12:47423800-47426000	Weak transcription	A549	lung
6	chr12:47423800-47426600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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