Variant report

Variant	rs67417372
Chromosome Location	chr7:79933679-79933680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10081383	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10215570	0.86[ASN][1000 genomes]
rs10224409	0.86[ASN][1000 genomes]
rs10226374	0.90[ASN][1000 genomes]
rs10235376	0.96[ASN][1000 genomes]
rs10245039	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10246790	0.86[ASN][1000 genomes]
rs10249625	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10269645	0.86[ASN][1000 genomes]
rs10954137	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13222182	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13224358	0.92[EUR][1000 genomes]
rs13226877	0.96[ASN][1000 genomes]
rs13229096	0.90[ASN][1000 genomes]
rs13230620	0.87[ASN][1000 genomes]
rs13233772	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13234088	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13237208	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13237302	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13237312	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13238619	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13243724	0.97[ASN][1000 genomes]
rs1995971	0.97[ASN][1000 genomes]
rs2048474	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2158123	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28584961	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28875814	0.86[ASN][1000 genomes]
rs3914181	0.86[ASN][1000 genomes]
rs4731318	0.90[EUR][1000 genomes]
rs7782930	0.95[ASN][1000 genomes]
rs7785183	0.97[ASN][1000 genomes]
rs7797587	0.97[ASN][1000 genomes]
rs7798039	0.97[ASN][1000 genomes]
rs9656355	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs979425	0.97[ASN][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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79931600-79934000	Enhancers	Fetal Brain Female	brain
2	chr7:79931800-79936400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:79932600-79938800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:79932800-79938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:79933000-79936600	Weak transcription	NHEK	skin
6	chr7:79933600-79933800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr7:79933600-79935400	Weak transcription	Fetal Brain Male	brain

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