Variant report

Variant	rs5997969
Chromosome Location	chr22:31790014-31790015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31789927..31791884-chr22:31793432..31795429,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs2273249	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2273251	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2899164	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34545960	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749265	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749267	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749268	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749270	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749286	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs5749298	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs5753596	0.86[EUR][1000 genomes]
rs5753597	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753601	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753609	0.81[JPT][hapmap]
rs5753610	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753612	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753613	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753615	0.80[ASN][1000 genomes]
rs5753618	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs5753621	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs5753623	0.80[EUR][1000 genomes]
rs5753628	0.82[CHB][hapmap]
rs5753631	0.81[CHB][hapmap]
rs5753638	0.83[CHB][hapmap]
rs5753659	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs5753669	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs5753671	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs5753698	0.82[JPT][hapmap]
rs5994394	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997977	0.86[EUR][1000 genomes]
rs695438	0.91[CEU][hapmap];0.83[JPT][hapmap];0.91[EUR][1000 genomes]
rs7284622	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs7285619	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs7293171	0.83[EUR][1000 genomes]
rs8138596	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8141150	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9606839	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9606843	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs9606848	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs9609276	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9609277	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9609296	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs9609297	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs9609304	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs9609329	0.83[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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5997969	DRG1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31790000-31790600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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