Variant report

Variant	rs72750760
Chromosome Location	chr5:51984409-51984410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10512989	0.82[ASN][1000 genomes]
rs16880141	0.82[ASN][1000 genomes]
rs16880156	0.85[ASN][1000 genomes]
rs16880165	0.82[ASN][1000 genomes]
rs1820165	0.82[ASN][1000 genomes]
rs55673164	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55977259	0.82[ASN][1000 genomes]
rs56926375	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72752532	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72752550	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752556	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752560	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72752561	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72752562	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72752564	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72752565	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72752567	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72752570	0.82[ASN][1000 genomes]
rs72752572	0.82[ASN][1000 genomes]
rs72752574	0.82[ASN][1000 genomes]
rs72752575	0.82[ASN][1000 genomes]
rs72752576	0.82[ASN][1000 genomes]
rs72752577	0.82[ASN][1000 genomes]
rs72754533	0.82[ASN][1000 genomes]
rs72754535	0.82[ASN][1000 genomes]
rs72754540	0.82[ASN][1000 genomes]
rs72754543	0.82[ASN][1000 genomes]
rs72754544	0.82[ASN][1000 genomes]
rs72756552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72756558	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:51971800-51987400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:51978800-51985800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:51978800-51986000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:51978800-51986800	Weak transcription	NHLF	lung
5	chr5:51979000-51986200	Weak transcription	HSMMtube	muscle
6	chr5:51979200-51985800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:51979200-51986200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:51979800-51985600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:51980600-51986800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:51982000-51985800	Weak transcription	Fetal Lung	lung

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