Variant report

Variant	rs62454250
Chromosome Location	chr7:26995403-26995404
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11977871	0.87[ASN][1000 genomes]
rs12667139	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12674308	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12700771	0.91[ASN][1000 genomes]
rs1560621	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17426751	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17426772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17426932	0.84[AMR][1000 genomes]
rs17436757	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17436813	0.84[AMR][1000 genomes]
rs17436827	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17437154	0.85[AMR][1000 genomes]
rs17448689	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17448911	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17471054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs213516	0.94[ASN][1000 genomes]
rs2259141	0.95[ASN][1000 genomes]
rs2301719	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2648079	0.94[ASN][1000 genomes]
rs2693660	0.91[ASN][1000 genomes]
rs2693661	0.91[ASN][1000 genomes]
rs2693669	0.92[ASN][1000 genomes]
rs28357116	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2936424	0.95[ASN][1000 genomes]
rs2936425	0.95[ASN][1000 genomes]
rs62446163	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62446164	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62448205	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62454246	0.95[ASN][1000 genomes]
rs62454362	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62454371	0.86[AMR][1000 genomes]
rs62454372	0.85[AMR][1000 genomes]
rs62457399	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62457403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62457404	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs706015	0.92[ASN][1000 genomes]
rs706019	0.95[ASN][1000 genomes]
rs774244	0.94[ASN][1000 genomes]
rs774249	0.92[ASN][1000 genomes]
rs774250	0.92[ASN][1000 genomes]
rs774251	0.92[ASN][1000 genomes]
rs774253	0.92[ASN][1000 genomes]
rs774256	0.94[ASN][1000 genomes]
rs774263	0.95[ASN][1000 genomes]
rs774266	0.95[ASN][1000 genomes]
rs813501	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs954051	0.91[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	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1033272	chr7:26976426-27020206	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26991200-26998000	Weak transcription	NHDF-Ad	bronchial
2	chr7:26991600-26999200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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