Variant report

Variant	rs6793392
Chromosome Location	chr3:43325835-43325836
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12485977	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12492694	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs13095863	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1351631	0.88[GIH][hapmap]
rs1588026	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17075317	0.85[JPT][hapmap]
rs4128530	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs4407383	0.90[GIH][hapmap]
rs4547674	0.90[GIH][hapmap]
rs6769576	0.90[GIH][hapmap]
rs7621298	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9311340	0.88[GIH][hapmap]
rs9681394	0.85[JPT][hapmap]
rs9683242	0.82[JPT][hapmap]
rs9815196	0.88[GIH][hapmap]
rs9858494	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9862259	1.00[ASW][hapmap];0.90[GIH][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][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	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6793392	SNRK	cis	cerebellum	SCAN
rs6793392	CXCR6	cis	cerebellum	SCAN
rs6793392	ANO10	cis	Whole Blood	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43318800-43327800	Weak transcription	Small Intestine	intestine
2	chr3:43321600-43327000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:43324000-43327200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:43325200-43326600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:43325200-43327400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:43325400-43326400	Weak transcription	HUVEC	blood vessel
7	chr3:43325800-43326200	Enhancers	NHEK	skin

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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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