Variant report

Variant	rs72788223
Chromosome Location	chr5:119835918-119835919
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:119834205..119836736-chr5:119837818..119840539,3	K562	blood:
2	chr5:119806492..119808449-chr5:119834650..119836281,2	K562	blood:
3	chr5:119835822..119838149-chr5:119840873..119842800,2	K562	blood:

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

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

rs_ID	r²[population]
rs10052263	0.91[ASN][1000 genomes]
rs10060164	0.91[ASN][1000 genomes]
rs10064951	0.91[ASN][1000 genomes]
rs10213989	0.95[ASN][1000 genomes]
rs10478473	0.95[ASN][1000 genomes]
rs10519636	0.91[ASN][1000 genomes]
rs1378262	0.91[ASN][1000 genomes]
rs16766	0.95[ASN][1000 genomes]
rs17146657	0.85[ASN][1000 genomes]
rs17146705	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146710	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1823926	0.91[ASN][1000 genomes]
rs1823927	0.91[ASN][1000 genomes]
rs1902147	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2655066	0.80[ASN][1000 genomes]
rs2691097	0.87[ASN][1000 genomes]
rs2691100	0.80[ASN][1000 genomes]
rs300956	0.91[ASN][1000 genomes]
rs3991306	0.95[ASN][1000 genomes]
rs41357149	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6865123	0.80[ASN][1000 genomes]
rs6895369	0.91[ASN][1000 genomes]
rs72786244	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72786259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72788224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788230	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788231	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788233	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788238	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72788245	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788246	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7702580	0.95[ASN][1000 genomes]
rs7710004	0.95[ASN][1000 genomes]
rs921782	0.95[ASN][1000 genomes]
rs9327145	0.95[ASN][1000 genomes]
rs9687538	0.95[ASN][1000 genomes]

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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 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	chr5:119812200-119840000	Weak transcription	Fetal Lung	lung
2	chr5:119816600-119843000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:119818200-119845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:119834400-119843600	Weak transcription	HSMMtube	muscle
5	chr5:119835600-119836000	Enhancers	NHDF-Ad	bronchial
6	chr5:119835600-119836200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:119835800-119836200	Active TSS	K562	blood
8	chr5:119835800-119836400	ZNF genes & repeats	HSMM	muscle
9	chr5:119835800-119843000	Weak transcription	Muscle Satellite Cultured Cells	--

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