Variant report

Variant	rs2653558
Chromosome Location	chr11:8901512-8901513
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8892466..8895053-chr11:8899767..8902040,2	K562	blood:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10734638	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10840127	0.95[CEU][hapmap]
rs10840129	0.94[CEU][hapmap]
rs11042099	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1133833	1.00[CEU][hapmap]
rs1136966	1.00[CHB][hapmap]
rs16906056	0.89[CEU][hapmap]
rs17337866	0.95[CEU][hapmap]
rs1811367	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1984775	1.00[CHB][hapmap]
rs2060157	0.89[EUR][1000 genomes]
rs2568029	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2568035	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2568056	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2568078	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653566	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2653574	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2653609	0.84[EUR][1000 genomes]
rs2653618	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2742483	0.87[EUR][1000 genomes]
rs2742502	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2742549	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2742553	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3365	1.00[CHB][hapmap]
rs34105455	1.00[ASN][1000 genomes]
rs34152382	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34275210	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34371023	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34418236	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34581555	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34769330	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35503692	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35563381	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35580466	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35909878	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36094920	0.80[EUR][1000 genomes]
rs36100955	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36180552	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3850934	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3915868	0.89[CEU][hapmap]
rs4061640	1.00[CHB][hapmap]
rs4910068	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7110170	0.81[EUR][1000 genomes]
rs7117900	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7127197	0.80[EUR][1000 genomes]
rs7396115	1.00[CHB][hapmap]
rs7936201	1.00[CHB][hapmap]
rs7941341	1.00[CHB][hapmap]
rs7950491	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[ASN][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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2653558	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8892800-8906600	Weak transcription	Spleen	Spleen
2	chr11:8894000-8903400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:8901000-8908000	Weak transcription	Psoas Muscle	Psoas
4	chr11:8901400-8901800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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