Variant report

Variant	rs2222554
Chromosome Location	chr19:51515145-51515146
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51512058..51513939-chr19:51514740..51518594,3	K562	blood:
2	chr19:51448114..51450757-chr19:51514230..51516246,2	K562	blood:

Variant related genes	Relation type
ENSG00000213022	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1061368	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12981039	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1532901	0.81[CEU][hapmap];0.80[JPT][hapmap]
rs1654539	0.80[JPT][hapmap]
rs1654543	0.80[JPT][hapmap]
rs1654558	0.80[JPT][hapmap]
rs1654559	0.84[CEU][hapmap];0.80[JPT][hapmap]
rs1698	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1701916	0.80[JPT][hapmap]
rs1701921	0.81[CEU][hapmap];0.80[JPT][hapmap]
rs1722550	0.82[JPT][hapmap]
rs1829971	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075696	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2075802	0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2304156	0.80[EUR][1000 genomes]
rs2569439	0.85[CEU][hapmap];0.96[EUR][1000 genomes]
rs2569440	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2569441	0.81[CEU][hapmap]
rs2569443	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2569456	0.92[CEU][hapmap];0.82[YRI][hapmap]
rs2659071	0.81[CEU][hapmap]
rs2659095	0.92[CEU][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap]
rs2659096	0.92[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs268899	0.80[CEU][hapmap]
rs2691257	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2739429	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6509509	0.82[JPT][hapmap]
rs7259451	0.93[CHB][hapmap];0.80[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs906190	0.84[CEU][hapmap];0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv579961	chr19:51509726-51516015	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51510200-51517000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr19:51514400-51519000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:51514600-51517200	Weak transcription	Esophagus	oesophagus
4	chr19:51514800-51516200	Weak transcription	HMEC	breast
5	chr19:51514800-51517200	Weak transcription	NHEK	skin
6	chr19:51514800-51517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:51514800-51517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:51514800-51520200	Weak transcription	Right Atrium	heart

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