Variant report

Variant	rs72741048
Chromosome Location	chr1:209989092-209989093
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11582607	0.89[EUR][1000 genomes]
rs11584081	0.84[AFR][1000 genomes]
rs11590807	0.82[EUR][1000 genomes]
rs12403006	0.89[EUR][1000 genomes]
rs17317580	0.89[EUR][1000 genomes]
rs17389541	0.89[EUR][1000 genomes]
rs2013196	0.84[EUR][1000 genomes]
rs34743335	0.89[EUR][1000 genomes]
rs6699507	0.82[EUR][1000 genomes]
rs7526313	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7544804	0.88[EUR][1000 genomes]
rs932334	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72741048	IRF6	cis	Whole Blood	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209979800-209989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:209981800-209989200	Weak transcription	Esophagus	oesophagus
3	chr1:209981800-209989600	Weak transcription	Spleen	Spleen
4	chr1:209981800-209989800	Weak transcription	Right Atrium	heart
5	chr1:209982000-209989200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:209982400-209989200	Weak transcription	Placenta	Placenta
7	chr1:209984400-209989200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:209985400-209989200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:209987800-209989200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:209987800-209989200	Enhancers	HMEC	breast
11	chr1:209987800-209991200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:209988000-209991400	Enhancers	Fetal Thymus	thymus
13	chr1:209988200-209989200	Weak transcription	HepG2	liver
14	chr1:209988800-209989200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:209988800-209989400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:209989000-209989400	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:209989000-209989600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:209989000-209990000	Flanking Active TSS	NHEK	skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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