Variant report

Variant	rs2058003
Chromosome Location	chr11:17653572-17653573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17652629..17655545-chr17:62222984..62224755,2	MCF-7	breast:
2	chr11:17620421..17621053-chr11:17653404..17653971,2	MCF-7	breast:
3	chr11:17652276..17654406-chr11:17655549..17657899,2	K562	blood:

Variant related genes	Relation type
ENSG00000266402	Chromatin interaction
ENSG00000199753	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1003490	0.84[CEU][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs10741730	0.82[JPT][hapmap]
rs10832807	0.82[JPT][hapmap]
rs10832821	1.00[CEU][hapmap];0.82[TSI][hapmap];0.92[EUR][1000 genomes]
rs10832822	1.00[CEU][hapmap];0.82[TSI][hapmap];0.92[EUR][1000 genomes]
rs10832823	0.92[EUR][1000 genomes]
rs11024330	0.82[JPT][hapmap]
rs11024342	1.00[CHD][hapmap]
rs11024345	0.89[CEU][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs11024348	0.81[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.91[ASN][1000 genomes]
rs11024349	1.00[CEU][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs11024354	0.92[EUR][1000 genomes]
rs12277962	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12290375	0.92[EUR][1000 genomes]
rs12361934	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs12422210	0.87[EUR][1000 genomes]
rs4757552	0.84[CEU][hapmap]
rs7110462	0.82[JPT][hapmap]
rs7112338	0.82[JPT][hapmap]
rs7118838	0.82[JPT][hapmap]
rs7129066	0.82[JPT][hapmap]
rs72871849	0.97[EUR][1000 genomes]
rs740320	1.00[CEU][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs740324	0.82[JPT][hapmap]
rs7939102	1.00[CHD][hapmap]
rs7948744	0.82[JPT][hapmap]
rs7949599	0.82[JPT][hapmap]
rs7950303	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv469938	chr11:17615203-17656148	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv467715	chr11:17615655-17656148	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv553587	chr11:17615655-17656148	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv897023	chr11:17617468-17667561	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv897024	chr11:17617468-17692011	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv520453	chr11:17625278-17656148	Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17652200-17653800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr11:17652400-17653600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr11:17653200-17653800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:17653200-17654200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr11:17653400-17653800	Enhancers	Psoas Muscle	Psoas

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