Variant report

Variant	rs2388920
Chromosome Location	chr1:80177763-80177764
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11162774	0.84[ASN][1000 genomes]
rs11162776	0.84[ASN][1000 genomes]
rs11162778	0.84[ASN][1000 genomes]
rs11579043	0.84[ASN][1000 genomes]
rs11582201	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583289	0.84[ASN][1000 genomes]
rs11586507	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588642	0.84[ASN][1000 genomes]
rs12059261	0.84[ASN][1000 genomes]
rs12095709	0.84[ASN][1000 genomes]
rs12239226	0.84[ASN][1000 genomes]
rs17421310	0.84[ASN][1000 genomes]
rs17422248	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17455295	0.84[ASN][1000 genomes]
rs17455371	0.84[ASN][1000 genomes]
rs1813054	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037620	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2091124	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127438	0.84[ASN][1000 genomes]
rs2185319	0.84[ASN][1000 genomes]
rs4015403	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56120881	0.84[ASN][1000 genomes]
rs56270683	0.84[ASN][1000 genomes]
rs56353519	0.84[ASN][1000 genomes]
rs56402550	0.84[ASN][1000 genomes]
rs61766436	0.84[ASN][1000 genomes]
rs61766438	0.84[ASN][1000 genomes]
rs61766441	0.84[ASN][1000 genomes]
rs61766442	0.84[ASN][1000 genomes]
rs61768589	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61768593	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61768596	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61768597	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61768598	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722589	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682474	0.84[ASN][1000 genomes]
rs9700883	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012296	chr1:79945395-80300216	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1012286	chr1:80057078-81005153	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv535018	chr1:80057078-81005153	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1000792	chr1:80076146-81015283	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv546638	chr1:80131994-80353796	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv546639	chr1:80152599-80177947	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv3422555	chr1:80159643-80191185	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80166600-80182200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:80173800-80177800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:80175000-80177800	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:80176200-80177800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:80177400-80182000	Weak transcription	Muscle Satellite Cultured Cells	--

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