Variant report

Variant	rs12320123
Chromosome Location	chr12:105492167-105492168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105489815..105492601-chr12:105500035..105503276,4	MCF-7	breast:
2	chr12:105482168..105484385-chr12:105492021..105493541,2	K562	blood:
3	chr12:105481985..105484385-chr12:105492021..105495022,3	K562	blood:

Variant related genes	Relation type
ENSG00000257999	Chromatin interaction
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10459207	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1076	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10778370	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10861337	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10861342	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10861346	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10861350	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10861353	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861354	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10861355	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861356	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861357	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861358	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10861360	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112359	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112366	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112368	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112371	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112373	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112374	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112378	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112380	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112383	0.96[ASN][1000 genomes]
rs11112386	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112390	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112393	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112394	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112396	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112397	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112398	0.93[EUR][1000 genomes]
rs11112403	0.93[EUR][1000 genomes]
rs11112413	0.90[EUR][1000 genomes]
rs11112418	0.85[EUR][1000 genomes]
rs11112422	0.85[EUR][1000 genomes]
rs12227605	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229846	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12315366	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12316054	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12320722	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12322134	0.83[EUR][1000 genomes]
rs1345095	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1444608	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1663563	0.94[ASN][1000 genomes]
rs2044307	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2888841	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34705618	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3794232	0.87[EUR][1000 genomes]
rs3794237	0.81[ASN][1000 genomes]
rs3829297	0.93[EUR][1000 genomes]
rs61506525	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs703683	0.93[EUR][1000 genomes]
rs7136344	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7305712	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73395802	0.91[EUR][1000 genomes]
rs7488014	0.83[EUR][1000 genomes]
rs7960452	0.88[EUR][1000 genomes]
rs7966106	0.87[EUR][1000 genomes]
rs7968711	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9634185	0.87[EUR][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr12:105487000-105493200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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