Variant report

Variant	rs17008862
Chromosome Location	chr2:73435601-73435602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73429142..73431548-chr2:73435337..73438113,3	K562	blood:
2	chr2:73412548..73415395-chr2:73433771..73436658,2	K562	blood:
3	chr2:73433877..73435619-chr2:73461378..73463959,2	MCF-7	breast:
4	chr2:73433530..73436483-chr2:73439285..73441625,3	K562	blood:

Variant related genes	Relation type
ENSG00000135624	Chromatin interaction
ENSG00000214513	Chromatin interaction
ENSG00000135632	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10048666	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048720	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048837	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10175626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10185970	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10189022	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10193579	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195007	1.00[ASN][1000 genomes]
rs10195282	1.00[ASN][1000 genomes]
rs10198711	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884073	0.89[ASN][1000 genomes]
rs11888772	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893547	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902788	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13009208	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385938	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13404992	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409784	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13415504	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13423796	0.89[ASN][1000 genomes]
rs13424035	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008864	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2043092	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];1.00[ASN][1000 genomes]
rs2288632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464603	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494567	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768636	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820701	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546576	1.00[JPT][hapmap]
rs57321619	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60913601	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61534579	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757079	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903461	0.89[ASN][1000 genomes]
rs7594590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv2776	chr2:73431854-73482304	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17008862	CD207	cis	parietal	SCAN
rs17008862	STAMBP	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73434600-73436600	Weak transcription	Spleen	Spleen
2	chr2:73435200-73435800	Flanking Active TSS	HepG2	liver
3	chr2:73435600-73435800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:73435600-73435800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr2:73435600-73438600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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