Variant report

Variant	rs28381718
Chromosome Location	chr7:87342011-87342012
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10486996	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487002	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154319	1.00[ASN][1000 genomes]
rs12216611	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17250003	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17327747	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328198	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328260	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328288	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328447	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17329661	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17329751	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330078	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008850	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078998	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2188522	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2188525	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2188528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214103	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235024	1.00[ASN][1000 genomes]
rs2235074	0.88[EUR][1000 genomes]
rs28381767	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28381770	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28381787	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28381797	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28381877	1.00[ASN][1000 genomes]
rs28381910	1.00[ASN][1000 genomes]
rs28746504	0.82[EUR][1000 genomes]
rs2888599	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213619	0.88[EUR][1000 genomes]
rs45443201	1.00[ASN][1000 genomes]
rs57392086	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57633298	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58343766	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58448193	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58726332	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58733016	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58903931	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58927827	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59964059	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61216993	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv607729	chr7:87326929-87352572	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv888695	chr7:87328502-87430669	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv607730	chr7:87330423-87352572	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1814479	chr7:87338467-87346819	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	2 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	chr7:87332600-87360000	Weak transcription	Liver	Liver
2	chr7:87339000-87342600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:87341000-87342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:87341200-87343000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:87341600-87342600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:87341800-87342200	Active TSS	HUVEC	blood vessel
7	chr7:87342000-87342200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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