Variant report

Variant	rs72852941
Chromosome Location	chr2:144742349-144742350
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	chr2:144737945..144740661-chr2:144740671..144743133,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12612842	0.88[ASN][1000 genomes]
rs12618509	0.88[ASN][1000 genomes]
rs12619798	0.88[ASN][1000 genomes]
rs12621041	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16823361	0.88[ASN][1000 genomes]
rs16823373	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16823382	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1861878	0.86[ASN][1000 genomes]
rs1864245	0.96[ASN][1000 genomes]
rs2111671	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28544584	0.81[ASN][1000 genomes]
rs28679451	0.97[ASN][1000 genomes]
rs35790422	0.88[ASN][1000 genomes]
rs3755088	0.88[ASN][1000 genomes]
rs3820756	0.97[ASN][1000 genomes]
rs55634187	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56090763	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56120346	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56123489	0.88[ASN][1000 genomes]
rs56136411	0.96[ASN][1000 genomes]
rs56166856	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58186643	0.88[ASN][1000 genomes]
rs60305932	0.88[ASN][1000 genomes]
rs61202373	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72851896	0.88[ASN][1000 genomes]
rs72852907	0.88[ASN][1000 genomes]
rs72852908	0.88[ASN][1000 genomes]
rs72852911	0.88[ASN][1000 genomes]
rs72852913	0.88[ASN][1000 genomes]
rs72852918	0.88[ASN][1000 genomes]
rs72852924	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72852926	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852929	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852930	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852947	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852948	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852967	0.97[ASN][1000 genomes]
rs72852969	0.97[ASN][1000 genomes]
rs72852982	0.86[ASN][1000 genomes]
rs72852985	0.97[ASN][1000 genomes]
rs72852992	0.84[ASN][1000 genomes]
rs72852993	0.81[ASN][1000 genomes]
rs72852998	0.81[ASN][1000 genomes]
rs72852999	0.81[ASN][1000 genomes]
rs72853001	0.81[ASN][1000 genomes]
rs72854106	0.81[ASN][1000 genomes]
rs73962160	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572132	0.88[ASN][1000 genomes]
rs9678811	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144713600-144780000	Weak transcription	HSMMtube	muscle
2	chr2:144723000-144795600	Weak transcription	Primary T cells from cord blood	blood
3	chr2:144726200-144780800	Weak transcription	Primary B cells from cord blood	blood
4	chr2:144730800-144746200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:144732200-144747400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:144735800-144800400	Weak transcription	Ovary	ovary
7	chr2:144738000-144751600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:144738200-144761200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:144741000-144753800	Weak transcription	Left Ventricle	heart
10	chr2:144741800-144742800	ZNF genes & repeats	Fetal Lung	lung
11	chr2:144742000-144742600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
12	chr2:144742000-144742800	ZNF genes & repeats	Aorta	Aorta
13	chr2:144742000-144742800	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr2:144742000-144742800	ZNF genes & repeats	Fetal Stomach	stomach
15	chr2:144742200-144742400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:144742200-144753400	Weak transcription	Psoas Muscle	Psoas

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