Variant report

Variant	rs12497353
Chromosome Location	chr3:191377204-191377205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191371142..191373244-chr3:191374844..191377761,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10937506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10937508	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10937509	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12486616	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12486984	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12488157	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12491520	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12491931	0.85[ASN][1000 genomes]
rs12497419	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12629345	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12629883	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12630470	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12635473	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2886385	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55844081	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58054649	0.92[EUR][1000 genomes]
rs58284414	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60279150	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60432190	0.98[ASN][1000 genomes]
rs60694545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61440395	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73888421	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7624169	0.82[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	nsv1008969	chr3:191192569-191383856	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv915689	chr3:191244719-191479974	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997817	chr3:191284834-191475809	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1001082	chr3:191320636-191579587	Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1009378	chr3:191359361-191928703	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1000060	chr3:191359361-191935048	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv437360	chr3:191371101-191392897	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191374800-191380000	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:191376400-191378000	Active TSS	K562	blood

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