Variant report

Variant	rs1446521
Chromosome Location	chr2:113827396-113827397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113825741..113828601-chr2:113834628..113836423,2	MCF-7	breast:
2	chr2:113826166..113827834-chr2:113829745..113831406,2	K562	blood:
3	chr2:113826651..113828655-chr2:113831530..113833461,2	K562	blood:
4	chr2:113819855..113821776-chr2:113826453..113828275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136697	Chromatin interaction
ENSG00000136695	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10187916	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11123156	0.87[EUR][1000 genomes]
rs11123158	0.81[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12475161	0.80[AMR][1000 genomes]
rs12475423	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs12614012	0.88[EUR][1000 genomes]
rs1374285	0.87[ASN][1000 genomes]
rs1374286	0.87[ASN][1000 genomes]
rs1446508	0.89[EUR][1000 genomes]
rs1530548	0.87[ASN][1000 genomes]
rs1530550	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.87[ASN][1000 genomes]
rs1530551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.87[ASN][1000 genomes]
rs1530552	0.87[ASN][1000 genomes]
rs1530553	0.87[ASN][1000 genomes]
rs1530554	0.88[EUR][1000 genomes]
rs1800930	0.94[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs1813048	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1867832	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1867833	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1900287	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs1900288	0.89[EUR][1000 genomes]
rs1900289	0.89[EUR][1000 genomes]
rs2100071	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2197578	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs2218557	0.88[EUR][1000 genomes]
rs2251872	0.87[ASN][1000 genomes]
rs2252007	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2441375	0.87[ASN][1000 genomes]
rs2441376	0.87[ASN][1000 genomes]
rs2472187	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2472188	0.80[AMR][1000 genomes]
rs2515394	0.87[ASN][1000 genomes]
rs2515395	0.87[ASN][1000 genomes]
rs2515396	0.87[ASN][1000 genomes]
rs2515397	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2515398	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2515399	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2515400	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2515401	0.94[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs2515402	0.94[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes]
rs2515403	0.80[AMR][1000 genomes]
rs2515404	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2862775	0.89[EUR][1000 genomes]
rs2862776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2862853	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2862855	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs315921	1.00[ASW][hapmap]
rs3180234	0.80[AMR][1000 genomes]
rs3180235	0.94[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs4848311	0.86[EUR][1000 genomes]
rs4848312	0.84[EUR][1000 genomes]
rs4849143	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs4849144	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs4849146	0.80[AMR][1000 genomes]
rs4849147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542110	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6724667	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs6728769	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6733859	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6748448	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7557928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7567108	0.89[EUR][1000 genomes]
rs7569284	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs7570058	0.89[EUR][1000 genomes]
rs7570159	0.89[EUR][1000 genomes]
rs7570267	0.81[CHB][hapmap]
rs7570483	0.89[EUR][1000 genomes]
rs7599662	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs768627	0.94[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs957201	0.80[AMR][1000 genomes]
rs9678578	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs990524	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[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	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	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1446521	IL36B	cis	Skin Sun Exposed Lower leg	GTEx
rs1446521	IL36B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113825200-113827800	Enhancers	Fetal Intestine Large	intestine
2	chr2:113825200-113828200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:113825200-113828200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:113825400-113833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:113825800-113832800	Enhancers	NHEK	skin
6	chr2:113825800-113839600	Enhancers	HMEC	breast
7	chr2:113826200-113833200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:113826600-113828800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:113827000-113827400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:113827000-113828600	Enhancers	Placenta	Placenta
11	chr2:113827200-113827400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:113827200-113827800	Enhancers	HSMMtube	muscle
13	chr2:113827200-113828200	Enhancers	Esophagus	oesophagus

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