Variant report

Variant	rs12471363
Chromosome Location	chr2:12144407-12144408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12142937..12145403-chr2:12173680..12175523,2	K562	blood:
2	chr2:12142160..12144413-chr2:12146263..12148369,2	K562	blood:

Variant related genes	Relation type
ENSG00000224184	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12463701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472165	1.00[ASN][1000 genomes]
rs12475585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476249	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478633	1.00[ASN][1000 genomes]
rs12478664	1.00[ASN][1000 genomes]
rs12478705	1.00[ASN][1000 genomes]
rs12991902	1.00[ASN][1000 genomes]
rs28420399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34506780	1.00[ASN][1000 genomes]
rs34819724	1.00[ASN][1000 genomes]
rs34900642	1.00[ASN][1000 genomes]
rs35954069	1.00[ASN][1000 genomes]
rs41378155	1.00[ASN][1000 genomes]
rs56260961	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58143595	1.00[ASN][1000 genomes]
rs59609793	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60195725	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60510807	1.00[ASN][1000 genomes]
rs60873627	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708806	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715248	1.00[ASN][1000 genomes]
rs6715988	1.00[ASN][1000 genomes]
rs71446438	1.00[ASN][1000 genomes]
rs73915889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918410	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918411	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918413	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918415	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918416	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918422	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918423	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918424	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918425	1.00[AMR][1000 genomes]
rs73918426	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918427	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918432	1.00[AMR][1000 genomes];0.83[EUR][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12137200-12148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:12139000-12144800	Weak transcription	Primary T cells from cord blood	blood
3	chr2:12139000-12145200	Weak transcription	HUVEC	blood vessel
4	chr2:12139200-12146200	Weak transcription	NHLF	lung
5	chr2:12139600-12146200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:12140200-12145000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:12141400-12147200	Weak transcription	K562	blood
8	chr2:12142400-12145600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:12143600-12144600	Weak transcription	GM12878-XiMat	blood

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