Variant report

Variant	rs475227
Chromosome Location	chr15:43546446-43546447
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43545679..43548058-chr15:43549487..43551092,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1095389	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11853991	0.93[EUR][1000 genomes]
rs12102205	0.80[AMR][1000 genomes]
rs12148735	0.84[AMR][1000 genomes]
rs1814323	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278856	0.82[AMR][1000 genomes]
rs2412781	0.80[AMR][1000 genomes]
rs35278581	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3809482	0.80[AMR][1000 genomes]
rs4547312	0.80[AMR][1000 genomes]
rs471122	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs473016	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs473554	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs475261	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs478028	0.82[AMR][1000 genomes]
rs485148	0.82[AMR][1000 genomes]
rs491800	0.80[AMR][1000 genomes]
rs491804	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs492743	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs493177	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs493444	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs498227	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs501884	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs504417	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs505249	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs507178	0.83[AMR][1000 genomes]
rs510108	0.84[AMR][1000 genomes]
rs512431	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs512628	0.83[AMR][1000 genomes]
rs513970	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs518234	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs518261	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs523737	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs524547	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs526292	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs530188	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs530683	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs531910	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs546722	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs552701	0.81[AMR][1000 genomes]
rs554001	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs555001	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs556851	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs560134	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs564946	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs565658	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs567357	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs572959	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs573169	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs573615	0.82[AMR][1000 genomes]
rs574065	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs576557	0.84[AMR][1000 genomes]
rs579651	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs825733	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs825734	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs475227	AC011330.5	cis	Artery Tibial	GTEx
rs475227	ADAL	cis	Artery Tibial	GTEx
rs475227	TGM5	cis	multi-tissue	Pritchard
rs475227	ADAL	cis	Nerve Tibial	GTEx
rs475227	ADAL	cis	Adipose Subcutaneous	GTEx
rs475227	ZSCAN29	cis	Thyroid	GTEx
rs475227	TGM5	Cis_1M	lymphoblastoid	RTeQTL
rs475227	ADAL	cis	lung	GTEx
rs475227	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs475227	TGM7	cis	Esophagus Mucosa	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43538000-43546600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr15:43545000-43546600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:43545000-43546600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:43545200-43546600	Enhancers	Primary B cells from peripheral blood	blood
5	chr15:43545200-43546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:43545200-43547000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:43545400-43546600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr15:43545400-43546600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:43545400-43546800	Enhancers	HMEC	breast
10	chr15:43545400-43546800	Enhancers	NHEK	skin
11	chr15:43545400-43547000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr15:43545600-43546600	Enhancers	Esophagus	oesophagus
13	chr15:43545600-43546600	Bivalent Enhancer	NH-A	brain
14	chr15:43545600-43546800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:43545600-43546800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:43545800-43547000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:43546000-43546600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr15:43546000-43546600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:43546200-43546600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:43546200-43546600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:43546200-43546600	Enhancers	Fetal Muscle Trunk	muscle
22	chr15:43546200-43546600	Enhancers	Gastric	stomach
23	chr15:43546200-43546600	Enhancers	Right Ventricle	heart
24	chr15:43546200-43547200	Enhancers	GM12878-XiMat	blood
25	chr15:43546400-43546600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:43546400-43546600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr15:43546400-43546600	Enhancers	Spleen	Spleen

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