Variant report

Variant	rs561248
Chromosome Location	chr1:57704778-57704779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs155286	0.86[JPT][hapmap]
rs197597	0.80[MEX][hapmap]
rs197603	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs197604	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs197605	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs2551484	0.88[GIH][hapmap]
rs264036	0.96[CHD][hapmap];0.88[GIH][hapmap]
rs2764660	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs490419	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs502350	0.81[CEU][hapmap];0.80[TSI][hapmap]
rs548897	0.82[TSI][hapmap]
rs556131	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs653386	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs663234	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

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	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs561248	PODN	cis	parietal	SCAN
rs561248	C1orf177	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57702200-57707400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:57702200-57711800	Weak transcription	Fetal Intestine Small	intestine

Quick Search:

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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