Variant report

Variant	rs1492696
Chromosome Location	chr1:224272965-224272966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10916370	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[TSI][hapmap]
rs11576702	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11582248	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs11584872	0.94[EUR][1000 genomes]
rs12410321	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12722938	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[TSI][hapmap]
rs12725040	0.81[EUR][1000 genomes]
rs12725830	0.80[EUR][1000 genomes]
rs12731770	0.92[CEU][hapmap]
rs12737029	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1492695	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16844823	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[TSI][hapmap]
rs16848126	0.80[EUR][1000 genomes]
rs1891740	0.94[EUR][1000 genomes]
rs2008340	0.91[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.93[TSI][hapmap]
rs34387992	0.80[EUR][1000 genomes]
rs34978219	0.81[EUR][1000 genomes]
rs36037699	0.94[EUR][1000 genomes]
rs4653926	0.85[EUR][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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1492696	MIA3	cis	parietal	SCAN
rs1492696	FBXO28	cis	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224268600-224275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:224270200-224275000	Weak transcription	HUVEC	blood vessel

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

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