Variant report

Variant	rs58473344
Chromosome Location	chr6:38984875-38984876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38984593..38986496-chr6:38994736..38997665,2	K562	blood:
2	chr6:38976194..38979423-chr6:38983493..38987225,3	K562	blood:
3	chr6:38983654..38986496-chr6:38995790..38997665,2	K562	blood:
4	chr6:38984460..38985977-chr6:38987498..38989238,2	K562	blood:
5	chr6:38975629..38979423-chr6:38983493..38987291,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10305428	1.00[AMR][1000 genomes]
rs10947769	0.89[ASN][1000 genomes]
rs10947772	0.81[ASN][1000 genomes]
rs10947773	0.89[ASN][1000 genomes]
rs10947774	0.88[ASN][1000 genomes]
rs12192920	0.88[ASN][1000 genomes]
rs12199125	0.90[ASN][1000 genomes]
rs12210777	0.89[ASN][1000 genomes]
rs12212950	0.88[ASN][1000 genomes]
rs16891346	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16891368	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16891395	1.00[AMR][1000 genomes]
rs16891435	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16891439	1.00[AMR][1000 genomes]
rs2281339	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2281341	0.98[ASN][1000 genomes]
rs2281343	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2281344	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56800988	0.89[ASN][1000 genomes]
rs59339583	0.89[ASN][1000 genomes]
rs60464866	1.00[AMR][1000 genomes]
rs60831909	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv885821	chr6:38843970-39039503	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv948357	chr6:38920998-39035836	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1027064	chr6:38984374-39034516	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr6:38984800-38985200	Enhancers	Right Atrium	heart
2	chr6:38984800-38985400	Weak transcription	Fetal Heart	heart

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