Variant report

Variant	rs3213999
Chromosome Location	chr15:40777645-40777646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40771099..40773628-chr15:40777295..40779621,2	K562	blood:
2	chr15:40768824..40772599-chr15:40776981..40779621,3	K562	blood:

Variant related genes	Relation type
ENSG00000244251	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1051482	0.87[CEU][hapmap]
rs10851396	0.83[CEU][hapmap]
rs11070279	0.83[CEU][hapmap]
rs11852527	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11853333	0.83[CEU][hapmap]
rs11857247	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs12148185	0.84[CEU][hapmap]
rs12907448	0.82[CEU][hapmap]
rs12908114	0.83[CEU][hapmap]
rs12915563	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12916323	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1453183	0.87[CEU][hapmap]
rs1901774	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2123534	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2412524	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34750756	0.82[AMR][1000 genomes]
rs35030447	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122190	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3803353	0.80[EUR][1000 genomes]
rs4457966	0.83[CEU][hapmap]
rs61048252	0.88[EUR][1000 genomes]
rs62018030	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62018046	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62018048	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62018051	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7164385	0.88[EUR][1000 genomes]
rs7165054	0.80[EUR][1000 genomes]
rs7181909	0.88[EUR][1000 genomes]
rs72733469	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs731640	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs733299	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8025458	0.87[CEU][hapmap]
rs8028910	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9672313	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs9806410	0.86[CEU][hapmap]
rs999197	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs3213999	CCDC32	cis	normal skin	skin_eQTL
rs3213999	C15orf57	cis	Adipose Subcutaneous	GTEx
rs3213999	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs3213999	RP11-111A22.1	cis	Artery Tibial	GTEx
rs3213999	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs3213999	C15orf57	cis	Cerebellum	GTEx
rs3213999	C15orf57	cis	Lymphoblastoid	GTEx
rs3213999	C15orf57	cis	Artery Tibial	GTEx
rs3213999	C15orf57	cis	lung	GTEx
rs3213999	CCDC32	cis	lesional skin	skin_eQTL
rs3213999	C15orf57	cis	Nerve Tibial	GTEx
rs3213999	C15orf57	cis	Esophagus Muscularis	GTEx
rs3213999	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs3213999	KNSTRN	cis	Heart Left Ventricle	GTEx
rs3213999	DISP2	cis	Thyroid	GTEx
rs3213999	CCDC32	cis	multi-tissue	Pritchard
rs3213999	RP11-111A22.1	cis	lung	GTEx
rs3213999	RP11-111A22.1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links