Variant report

Variant	rs12300368
Chromosome Location	chr12:42691803-42691804
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42691640..42695316-chr12:42718541..42721156,4	MCF-7	breast:
2	chr12:42690670..42692554-chr12:42699128..42701170,2	K562	blood:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction
ENSG00000139168	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11181342	0.82[AFR][1000 genomes]
rs11181372	0.94[AFR][1000 genomes]
rs11181374	0.94[AFR][1000 genomes]
rs11181376	0.94[AFR][1000 genomes]
rs11181377	0.94[AFR][1000 genomes]
rs11181392	0.94[AFR][1000 genomes]
rs11181394	0.94[AFR][1000 genomes]
rs12297162	0.94[AFR][1000 genomes]
rs12299193	0.94[AFR][1000 genomes]
rs12300611	0.94[AFR][1000 genomes]
rs12300698	0.94[AFR][1000 genomes]
rs12301505	0.94[AFR][1000 genomes]
rs12305400	0.94[AFR][1000 genomes]
rs12307866	0.94[AFR][1000 genomes]
rs12308598	0.94[AFR][1000 genomes]
rs12308904	0.94[AFR][1000 genomes]
rs12309515	0.94[AFR][1000 genomes]
rs12312690	0.94[AFR][1000 genomes]
rs12313448	0.94[AFR][1000 genomes]
rs12313668	0.82[AFR][1000 genomes]
rs12314028	0.94[AFR][1000 genomes]
rs12319084	0.94[AFR][1000 genomes]
rs12321515	0.94[AFR][1000 genomes]
rs12322392	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	esv1809322	chr12:42682065-42699107	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 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	chr12:42690800-42706400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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