Variant report

Variant	rs72994328
Chromosome Location	chr6:131046867-131046868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10485095	1.00[AFR][1000 genomes]
rs17059344	1.00[AFR][1000 genomes]
rs17059420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17059453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17059490	1.00[AFR][1000 genomes]
rs17059520	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17059525	1.00[EUR][1000 genomes]
rs2221651	0.99[ASN][1000 genomes]
rs4144215	1.00[AFR][1000 genomes]
rs55925405	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56116438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56275069	1.00[AFR][1000 genomes]
rs56684748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56725541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56771583	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60789680	1.00[AFR][1000 genomes]
rs72499767	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72988292	1.00[AFR][1000 genomes]
rs72988295	1.00[AFR][1000 genomes]
rs72990208	1.00[AFR][1000 genomes]
rs72990221	1.00[AFR][1000 genomes]
rs72990296	1.00[AFR][1000 genomes]
rs72990301	1.00[AFR][1000 genomes]
rs72992209	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992224	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992225	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72992295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72992299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72994307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72994310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72994322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72996247	1.00[AFR][1000 genomes]
rs72996254	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72996263	1.00[EUR][1000 genomes]
rs72996267	1.00[AFR][1000 genomes]
rs72996271	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72996290	1.00[EUR][1000 genomes]
rs72996293	1.00[EUR][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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131046600-131047000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:131046600-131047000	Enhancers	NHEK	skin
3	chr6:131046800-131047000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links