Variant report

Variant	rs6748324
Chromosome Location	chr2:73155664-73155665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10183113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10185826	0.85[JPT][hapmap]
rs10195562	0.85[CEU][hapmap]
rs10196456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196568	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1048704	0.95[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11686652	0.97[ASN][1000 genomes]
rs17008501	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2164733	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs56703688	0.95[AFR][1000 genomes]
rs59833760	0.95[ASN][1000 genomes]
rs59924850	0.97[ASN][1000 genomes]
rs6728203	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745468	0.90[CEU][hapmap]
rs6757051	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73945638	0.97[ASN][1000 genomes]
rs755409	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs999494	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6748324	SFXN5	cis	multi-tissue	Pritchard

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73154000-73158200	Weak transcription	Fetal Brain Female	brain
2	chr2:73155200-73156200	Bivalent Enhancer	Fetal Intestine Small	intestine
3	chr2:73155600-73155800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:73155600-73155800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:73155600-73155800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum

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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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