Variant report

Variant	rs16930991
Chromosome Location	chr9:117463606-117463607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117456791..117459697-chr9:117463060..117464661,2	K562	blood:
2	chr9:117456868..117459697-chr9:117461590..117464560,2	K562	blood:

Variant related genes	Relation type
ENSG00000230284	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10513256	0.93[ASN][1000 genomes]
rs1075371	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10982362	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12005359	0.89[ASN][1000 genomes]
rs12555235	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12683400	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12684218	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12685463	0.82[ASN][1000 genomes]
rs12686294	0.80[EUR][1000 genomes]
rs16930792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16930798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2031876	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2274598	0.87[EUR][1000 genomes]
rs2282002	1.00[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4978604	0.89[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4979462	1.00[CEU][hapmap]
rs56765969	0.83[EUR][1000 genomes]
rs57814945	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58007505	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59422754	0.87[EUR][1000 genomes]
rs60387901	0.87[EUR][1000 genomes]
rs60862773	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61102550	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6478086	1.00[CEU][hapmap]
rs7849274	1.00[CEU][hapmap]
rs7850108	1.00[CEU][hapmap]
rs7857127	0.87[EUR][1000 genomes]
rs7866902	0.83[EUR][1000 genomes]
rs7875692	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9775036	0.87[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117460000-117463800	Weak transcription	HSMM	muscle
2	chr9:117460000-117464000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:117460000-117464400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:117460200-117464200	Weak transcription	NHDF-Ad	bronchial
5	chr9:117461000-117464200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:117462200-117471600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr9:117463400-117464800	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links