Variant report

Variant	rs72649943
Chromosome Location	chr1:210225730-210225731
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	chr1:210225380..210227155-chr1:210230705..210233620,2	K562	blood:
2	chr1:210225380..210227354-chr1:210231385..210234453,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12561877	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12562421	1.00[AMR][1000 genomes]
rs12563982	1.00[AMR][1000 genomes]
rs12565234	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12565533	1.00[AMR][1000 genomes]
rs12566616	1.00[AMR][1000 genomes]
rs12567184	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12567185	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12569195	1.00[AMR][1000 genomes]
rs35163211	1.00[AMR][1000 genomes]
rs4144930	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72468062	1.00[AMR][1000 genomes]
rs72649922	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72649926	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72649927	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72649928	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72649929	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72649930	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72649931	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72649932	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72649933	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72649934	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72649935	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72649936	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72649939	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72649941	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72649942	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72649944	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72649945	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72649946	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72649947	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72649950	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72649951	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72649953	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72649954	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72649958	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72649961	1.00[AMR][1000 genomes]
rs72649963	1.00[AMR][1000 genomes]
rs72649965	1.00[AMR][1000 genomes]
rs72649970	1.00[AMR][1000 genomes]
rs72649971	1.00[AMR][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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:210221400-210243200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:210223600-210245600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:210224400-210231200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:210224400-210250000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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