Variant report

Variant	rs1557220
Chromosome Location	chr9:117461207-117461208
allele	C/T
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	ESRRA	chr9:117458747-117461479	GM12878	blood:	n/a	chr9:117459306-117459322 chr9:117461416-117461426 chr9:117461414-117461427 chr9:117459301-117459317 chr9:117461414-117461430 chr9:117459308-117459318 chr9:117461414-117461426 chr9:117459308-117459318

Variant related genes	Relation type
ENSG00000230284	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10513257	0.88[ASN][1000 genomes]
rs10759733	0.80[EUR][1000 genomes]
rs10817665	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10817666	0.86[ASN][1000 genomes]
rs10817667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10817668	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10982367	0.84[ASN][1000 genomes]
rs10982370	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10982372	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10982373	0.85[CEU][hapmap]
rs1410561	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1831177	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2149370	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296947	0.81[ASN][1000 genomes]
rs2418316	0.81[ASN][1000 genomes]
rs4979454	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4979457	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7022339	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7039257	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7048742	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7847092	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7850949	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7860720	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7868007	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7869653	0.93[CHB][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs9695517	0.88[CEU][hapmap]
rs9886907	1.00[CEU][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893766	chr9:117385992-117516418	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1042718	chr9:117435306-117488969	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117457600-117462200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr9:117460000-117462200	Weak transcription	NHEK	skin
3	chr9:117460000-117463800	Weak transcription	HSMM	muscle
4	chr9:117460000-117464000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:117460000-117464400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:117460200-117463200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr9:117460200-117463400	Weak transcription	Hela-S3	cervix
8	chr9:117460200-117464200	Weak transcription	NHDF-Ad	bronchial
9	chr9:117461000-117462200	ZNF genes & repeats	GM12878-XiMat	blood
10	chr9:117461000-117464200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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