Variant report

Variant	rs7546403
Chromosome Location	chr1:79151372-79151373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10493615	0.85[EUR][1000 genomes]
rs1107320	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1109244	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11162523	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11162536	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162537	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11162539	0.87[EUR][1000 genomes]
rs11162540	0.86[EUR][1000 genomes]
rs11162541	0.86[EUR][1000 genomes]
rs11162544	0.85[EUR][1000 genomes]
rs11587990	0.86[EUR][1000 genomes]
rs12120187	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12128384	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12403117	0.87[EUR][1000 genomes]
rs12409331	0.87[EUR][1000 genomes]
rs12409781	0.87[EUR][1000 genomes]
rs17395034	0.87[EUR][1000 genomes]
rs17395097	0.85[EUR][1000 genomes]
rs17398682	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17399158	0.85[EUR][1000 genomes]
rs17399192	0.85[EUR][1000 genomes]
rs1887286	0.85[EUR][1000 genomes]
rs1926897	0.85[EUR][1000 genomes]
rs1926898	0.85[EUR][1000 genomes]
rs1926901	0.88[EUR][1000 genomes]
rs1926902	0.87[EUR][1000 genomes]
rs1926903	0.87[EUR][1000 genomes]
rs1926904	0.87[EUR][1000 genomes]
rs1926905	0.87[EUR][1000 genomes]
rs273250	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58150654	0.87[EUR][1000 genomes]
rs58830966	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58921479	0.87[EUR][1000 genomes]
rs58945140	0.86[EUR][1000 genomes]
rs58993850	0.87[EUR][1000 genomes]
rs59409549	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60311076	0.87[EUR][1000 genomes]
rs61500835	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61613596	0.87[EUR][1000 genomes]
rs61681700	0.87[EUR][1000 genomes]
rs61769988	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61769992	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61769996	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61770023	0.87[EUR][1000 genomes]
rs61770024	0.87[EUR][1000 genomes]
rs6678067	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975986	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs975987	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830315	chr1:79008443-79200591	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv871140	chr1:79095581-79155134	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7546403	IFI44	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79117600-79153000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:79148400-79153000	Weak transcription	Osteobl	bone
3	chr1:79148600-79153000	Weak transcription	HSMM	muscle
4	chr1:79148600-79153000	Weak transcription	NHDF-Ad	bronchial
5	chr1:79149000-79152800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:79149000-79153200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:79149000-79153400	Weak transcription	NHLF	lung
8	chr1:79149200-79152800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:79149800-79153400	Weak transcription	HUVEC	blood vessel
10	chr1:79150000-79152600	Weak transcription	Liver	Liver
11	chr1:79150800-79151400	Enhancers	Brain Germinal Matrix	brain
12	chr1:79151200-79156400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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