Variant report

Variant	rs1515752
Chromosome Location	chr17:45288825-45288826
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45248922..45251100-chr17:45288173..45289981,2	K562	blood:
2	chr17:45264884..45268790-chr17:45285196..45288860,4	K562	blood:
3	chr17:45252852..45255226-chr17:45287274..45289191,2	K562	blood:
4	chr17:45286922..45288937-chr17:45391804..45393844,2	K562	blood:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11570508	0.82[GIH][hapmap]
rs12946597	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1515751	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713494	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap]
rs1713495	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap]
rs17668126	0.82[GIH][hapmap]
rs188799	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2071438	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221597	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs221598	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221599	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221602	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3785875	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968309	0.84[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.96[ASN][1000 genomes]
rs701982	0.92[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs764792	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8071382	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8076808	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs858673	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs858679	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs938904	0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs9905948	0.82[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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1515752	SOST	cis	cerebellum	SCAN
rs1515752	NMT1	cis	cerebellum	SCAN
rs1515752	DBF4B	cis	parietal	SCAN
rs1515752	ACLY	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45283000-45289600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45284400-45293400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:45286200-45289200	Active TSS	Fetal Heart	heart
4	chr17:45286200-45290800	Active TSS	Right Atrium	heart
5	chr17:45286600-45289800	Weak transcription	GM12878-XiMat	blood
6	chr17:45286600-45296200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:45287000-45294200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr17:45288000-45289000	Flanking Active TSS	K562	blood
9	chr17:45288000-45289200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:45288000-45290400	Active TSS	Fetal Muscle Trunk	muscle
11	chr17:45288000-45290600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr17:45288400-45289800	Weak transcription	Placenta	Placenta
13	chr17:45288400-45290400	Weak transcription	Psoas Muscle	Psoas
14	chr17:45288400-45290400	Active TSS	HSMMtube	muscle
15	chr17:45288400-45302000	Weak transcription	HSMM	muscle
16	chr17:45288600-45289200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
17	chr17:45288600-45296200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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