Variant report

Variant	rs2096832
Chromosome Location	chr11:106054831-106054832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10450645	0.87[AFR][1000 genomes]
rs11823365	0.93[EUR][1000 genomes]
rs12271522	0.93[EUR][1000 genomes]
rs12286785	0.82[EUR][1000 genomes]
rs17485615	0.94[EUR][1000 genomes]
rs1893173	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1939809	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1940763	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940784	0.83[AFR][1000 genomes]
rs1944771	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1944776	0.82[ASN][1000 genomes]
rs1955019	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2155339	0.91[CEU][hapmap];0.87[TSI][hapmap]
rs2186879	0.91[CEU][hapmap]
rs3889602	0.91[CEU][hapmap];0.87[TSI][hapmap]
rs4531437	0.85[AFR][1000 genomes]
rs4754144	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4754145	0.83[AFR][1000 genomes]
rs4755133	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755139	0.87[AFR][1000 genomes]
rs482942	0.90[JPT][hapmap]
rs501777	0.81[AFR][1000 genomes]
rs55865873	0.93[EUR][1000 genomes]
rs56167003	0.82[EUR][1000 genomes]
rs56412913	0.94[EUR][1000 genomes]
rs591957	0.89[JPT][hapmap]
rs599811	0.82[ASN][1000 genomes]
rs603807	0.82[ASN][1000 genomes]
rs608643	0.90[JPT][hapmap]
rs646242	0.82[AFR][1000 genomes]
rs664549	0.81[AFR][1000 genomes]
rs7481097	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926902	0.81[EUR][1000 genomes]
rs7943583	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898358	chr11:105999580-106182251	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv430428	chr11:106005901-106173046	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036986	chr11:106046850-106075023	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2096832	AASDHPPT	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106045800-106063600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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