Variant report

Variant	rs1530554
Chromosome Location	chr2:113799681-113799682
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113799300..113800125-chr2:113836934..113837726,3	MCF-7	breast:
2	chr2:113793052..113795828-chr2:113797640..113799974,2	K562	blood:
3	chr2:113798210..113800371-chr2:113830392..113832016,2	MCF-7	breast:
4	chr2:113793052..113795716-chr2:113797814..113799974,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10187916	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11123156	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123158	0.92[EUR][1000 genomes]
rs12475423	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614012	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374285	0.84[ASN][1000 genomes]
rs1374286	0.84[ASN][1000 genomes]
rs1446508	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446521	0.88[EUR][1000 genomes]
rs1530548	0.84[ASN][1000 genomes]
rs1530550	0.84[ASN][1000 genomes]
rs1530551	0.84[ASN][1000 genomes]
rs1530552	0.84[ASN][1000 genomes]
rs1530553	0.84[ASN][1000 genomes]
rs1813048	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1867832	0.93[EUR][1000 genomes]
rs1867833	0.93[EUR][1000 genomes]
rs1900287	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900288	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900289	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2100071	0.94[EUR][1000 genomes]
rs2197578	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218557	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251872	0.84[ASN][1000 genomes]
rs2252007	0.84[ASN][1000 genomes]
rs2441375	0.84[ASN][1000 genomes]
rs2441376	0.84[ASN][1000 genomes]
rs2472187	0.84[ASN][1000 genomes]
rs2515394	0.84[ASN][1000 genomes]
rs2515395	0.84[ASN][1000 genomes]
rs2515396	0.84[ASN][1000 genomes]
rs2515397	0.84[ASN][1000 genomes]
rs2515398	0.84[ASN][1000 genomes]
rs2515399	0.84[ASN][1000 genomes]
rs2515400	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515404	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2862775	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2862776	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2862853	0.93[EUR][1000 genomes]
rs2862855	0.86[EUR][1000 genomes]
rs4848311	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848312	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4849143	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849147	0.88[EUR][1000 genomes]
rs6542110	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6724667	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728769	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6733859	0.84[ASN][1000 genomes]
rs6748448	0.84[ASN][1000 genomes]
rs7557928	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567108	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570058	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570159	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570483	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599662	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9678578	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs990524	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv874885	chr2:113783671-113807021	Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv874887	chr2:113796666-113799681	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv874888	chr2:113796666-113808054	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv874889	chr2:113796666-113814670	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv874890	chr2:113797677-113808054	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1530554	IL36B	cis	Skin Sun Exposed Lower leg	GTEx
rs1530554	IL36B	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113797800-113799800	Weak transcription	Stomach Mucosa	stomach

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