Variant report

Variant	rs73394563
Chromosome Location	chr12:104649662-104649663
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104647499..104652832-chr12:104679215..104682822,7	K562	blood:
2	chr12:104648960..104654527-chr12:104679132..104682678,7	MCF-7	breast:
3	chr12:104648718..104651563-chr12:104680805..104682351,2	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10861184	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11111974	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11111975	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11829922	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836627	0.94[AMR][1000 genomes]
rs11837739	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11838277	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12299450	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12303096	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303143	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307313	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17035253	0.94[AMR][1000 genomes]
rs17035296	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17807362	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35861067	0.94[AMR][1000 genomes]
rs57040145	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57416848	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57718153	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58729796	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59185359	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60264625	0.88[AMR][1000 genomes]
rs61690515	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296260	0.86[ASN][1000 genomes]
rs73392529	0.83[AMR][1000 genomes]
rs73392542	0.94[AMR][1000 genomes]
rs73392580	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392594	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394521	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][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	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104647400-104650000	Weak transcription	K562	blood
2	chr12:104649000-104649800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:104649200-104649800	Active TSS	Hela-S3	cervix
4	chr12:104649600-104650200	Flanking Active TSS	A549	lung

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