Variant report

Variant	rs11071167
Chromosome Location	chr15:55405253-55405254
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10444800	0.81[EUR][1000 genomes]
rs10444801	0.81[EUR][1000 genomes]
rs11071165	0.94[ASW][hapmap];0.94[CEU][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap]
rs11071166	0.80[EUR][1000 genomes]
rs11071168	0.86[AFR][1000 genomes]
rs12911537	0.80[EUR][1000 genomes]
rs489055	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs489105	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs491004	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs493244	0.94[ASN][1000 genomes]
rs505918	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs541608	0.92[ASN][1000 genomes]
rs541635	0.92[ASN][1000 genomes]
rs549231	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs551093	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62018201	1.00[ASN][1000 genomes]
rs62018202	0.82[EUR][1000 genomes]
rs7178925	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7179337	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv457156	chr15:55400649-55466155	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv569521	chr15:55400649-55466155	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	esv3382256	chr15:55404950-55405295	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11071167	BCAS3	trans	lymphoblastoid	seeQTL
rs11071167	RAB27A	cis	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55401000-55406200	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:55405000-55405800	Enhancers	Fetal Muscle Trunk	muscle
3	chr15:55405200-55416800	Weak transcription	Fetal Lung	lung

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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