Variant report

Variant	rs4654048
Chromosome Location	chr1:224761818-224761819
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	chr1:224760255..224762194-chr1:224803067..224805853,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction
ENSG00000233384	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1002131	0.85[EUR][1000 genomes]
rs10799586	0.97[EUR][1000 genomes]
rs10916644	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10916645	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916647	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10916648	0.97[EUR][1000 genomes]
rs10916649	0.97[EUR][1000 genomes]
rs10916655	0.83[EUR][1000 genomes]
rs10916656	0.82[EUR][1000 genomes]
rs12042245	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042501	0.97[EUR][1000 genomes]
rs12044182	0.97[EUR][1000 genomes]
rs12044602	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12046431	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12047290	0.97[EUR][1000 genomes]
rs12134248	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136356	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145617	0.90[EUR][1000 genomes]
rs1909442	0.95[EUR][1000 genomes]
rs2173526	0.86[EUR][1000 genomes]
rs2405312	0.97[EUR][1000 genomes]
rs4653590	0.97[EUR][1000 genomes]
rs4654050	0.97[EUR][1000 genomes]
rs4654053	0.90[EUR][1000 genomes]
rs4654054	0.86[EUR][1000 genomes]
rs4654059	0.83[EUR][1000 genomes]
rs57674260	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59391065	1.00[EUR][1000 genomes]
rs61825844	0.92[EUR][1000 genomes]
rs6426142	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6667012	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6681385	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696059	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873691	0.97[EUR][1000 genomes]
rs883114	0.85[EUR][1000 genomes]
rs9919286	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224740000-224762200	Weak transcription	Ovary	ovary
2	chr1:224753600-224780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:224754000-224762000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:224754000-224767000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:224754000-224767200	Weak transcription	NHDF-Ad	bronchial
6	chr1:224759800-224766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:224759800-224767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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