Variant report

Variant	rs6580801
Chromosome Location	chr12:51569463-51569464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51568437..51570168-chr12:51571133..51573432,2	K562	blood:
2	chr12:51564447..51569582-chr12:51630930..51635335,8	K562	blood:
3	chr12:51475324..51477948-chr12:51566462..51569488,3	MCF-7	breast:
4	chr12:51567118..51569511-chr12:51775066..51777946,2	K562	blood:
5	chr12:51564257..51569582-chr12:51630930..51636873,13	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000139629	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10783414	0.89[EUR][1000 genomes]
rs10783416	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10783417	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783418	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876143	0.84[EUR][1000 genomes]
rs10876146	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1565721	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2029686	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2436645	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2436646	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2436647	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2640511	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2640521	0.82[EUR][1000 genomes]
rs2640523	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2730647	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2730650	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2730654	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2956428	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6580799	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6580800	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6580803	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6580804	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7306522	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7959378	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 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	chr12:51567400-51577200	Weak transcription	Fetal Kidney	kidney
2	chr12:51567400-51583400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51567400-51584000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:51567400-51610600	Weak transcription	Right Atrium	heart

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