Variant report

Variant	rs12306963
Chromosome Location	chr12:48327212-48327213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48298644..48301477-chr12:48327051..48330192,3	MCF-7	breast:
2	chr12:48325022..48326830-chr12:48326886..48329011,2	MCF-7	breast:
3	chr12:48318671..48321191-chr12:48325244..48327910,3	K562	blood:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10783221	0.86[EUR][1000 genomes]
rs10875703	0.86[EUR][1000 genomes]
rs10875704	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10875705	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875706	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10875707	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10875708	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10875709	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168307	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168308	0.85[EUR][1000 genomes]
rs11168310	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168311	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168313	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11168314	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11168315	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11168316	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11168318	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168319	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168320	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12316950	0.86[EUR][1000 genomes]
rs12831006	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34381446	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4411326	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61920869	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61920870	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7300028	0.87[EUR][1000 genomes]
rs7300088	0.85[EUR][1000 genomes]
rs7300301	0.85[EUR][1000 genomes]
rs7303966	0.83[EUR][1000 genomes]
rs7305180	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7308216	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7975675	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48325800-48328800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:48326200-48327600	Weak transcription	HSMMtube	muscle

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