Variant report

Variant	rs11024348
Chromosome Location	chr11:17651495-17651496
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1003490	0.82[JPT][hapmap]
rs10741730	0.82[JPT][hapmap]
rs10832807	0.82[JPT][hapmap]
rs11024330	0.82[JPT][hapmap]
rs11024342	1.00[CHD][hapmap]
rs11024345	0.82[JPT][hapmap]
rs11024349	0.82[JPT][hapmap]
rs12277962	0.82[JPT][hapmap]
rs12281125	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12361934	0.82[JPT][hapmap]
rs2058003	0.81[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.91[ASN][1000 genomes]
rs4757556	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7110462	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs7112338	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs7118838	0.82[JPT][hapmap]
rs7129066	0.82[JPT][hapmap]
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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11024348	NUCB2	cis	cerebellum	SCAN
rs11024348	DBX1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17650800-17652800	Enhancers	Fetal Muscle Leg	muscle

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