Variant report

Variant	rs72719243
Chromosome Location	chr1:179409616-179409617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179408823..179410527-chr1:179414662..179417302,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10913756	0.80[ASN][1000 genomes]
rs10913765	0.80[ASN][1000 genomes]
rs11584680	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11802595	0.80[ASN][1000 genomes]
rs12729906	0.80[ASN][1000 genomes]
rs16854042	0.88[ASN][1000 genomes]
rs4072451	0.86[ASN][1000 genomes]
rs4072452	0.88[ASN][1000 genomes]
rs4111171	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4424468	0.80[ASN][1000 genomes]
rs4651029	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4651030	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4651031	0.80[ASN][1000 genomes]
rs4651032	0.80[ASN][1000 genomes]
rs4651033	0.80[ASN][1000 genomes]
rs4652400	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56232973	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59559400	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425556	0.80[ASN][1000 genomes]
rs6425557	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6656056	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6657452	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6664339	0.80[ASN][1000 genomes]
rs6665787	0.86[ASN][1000 genomes]
rs6693527	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6693627	0.80[ASN][1000 genomes]
rs6698526	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72704417	0.87[EUR][1000 genomes]
rs7521291	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs962428	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9660976	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9726734	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	esv1819329	chr1:179371973-179442337	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv466217	chr1:179371973-179477921	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv548297	chr1:179371973-179477921	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv548298	chr1:179376896-179436288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs72719243	TDRD5	cis	Artery Tibial	GTEx
rs72719243	TDRD5	cis	Artery Aorta	GTEx
rs72719243	TDRD5	cis	Thyroid	GTEx
rs72719243	TDRD5	cis	Adipose Subcutaneous	GTEx
rs72719243	TDRD5	cis	Nerve Tibial	GTEx
rs72719243	TDRD5	cis	lung	GTEx
rs72719243	TDRD5	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179405200-179413000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:179408800-179411400	Enhancers	Fetal Intestine Small	intestine
3	chr1:179409600-179411000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links