Variant report

Variant	rs917595
Chromosome Location	chr17:38819498-38819499
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38819064-38819568	K562	blood:	n/a	n/a
2	YY1	chr17:38819410-38819623	GM12878	blood:	n/a	n/a
3	YY1	chr17:38819398-38819552	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38813785..38815529-chr17:38818795..38820329,2	K562	blood:

Variant related genes	Relation type
ENSG00000271876	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1029792	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1048572	0.95[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1048573	0.95[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11658582	0.84[JPT][hapmap]
rs12943859	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2008469	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2109223	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2159430	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2253717	0.80[ASN][1000 genomes]
rs2315020	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2429549	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2462962	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2462963	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2462964	0.82[ASN][1000 genomes]
rs2462970	0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs2469818	0.81[ASN][1000 genomes]
rs3752026	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4890093	0.95[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4890117	0.85[JPT][hapmap]
rs4890119	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6503547	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6503549	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7209467	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7209735	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210983	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7212255	0.80[ASN][1000 genomes]
rs7219483	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7223332	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7223354	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs726848	0.91[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs757411	0.83[JPT][hapmap]
rs758630	0.80[ASN][1000 genomes]
rs8068721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076587	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs917593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9896791	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9900324	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9906785	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9915135	0.95[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv574994	chr17:38719799-38824636	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2758454	chr17:38748300-38850104	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758689	chr17:38748300-38850104	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv431626	chr17:38770965-38999722	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv908225	chr17:38776406-38868480	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs917595	KRT24	cis	Esophagus Mucosa	GTEx
rs917595	SMARCE1	Cis_1M	lymphoblastoid	RTeQTL
rs917595	CCR7	Cis_1M	lymphoblastoid	RTeQTL
rs917595	KRT222	cis	Nerve Tibial	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38805400-38821200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:38805600-38820600	Weak transcription	Brain Anterior Caudate	brain
3	chr17:38805600-38821000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr17:38808400-38821000	Weak transcription	Fetal Intestine Small	intestine
5	chr17:38809600-38819600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:38810000-38820800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr17:38813600-38819600	Weak transcription	Brain Angular Gyrus	brain
8	chr17:38816600-38820000	Weak transcription	Liver	Liver
9	chr17:38816800-38821200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:38819400-38819600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr17:38819400-38819600	Enhancers	Colon Smooth Muscle	Colon
12	chr17:38819400-38819800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr17:38819400-38819800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:38819400-38819800	Enhancers	Spleen	Spleen
15	chr17:38819400-38820000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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