Variant report

Variant	rs1945592
Chromosome Location	chr11:59025435-59025436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1048444	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10792228	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896953	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896956	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896958	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229896	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11229898	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11229899	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11600294	0.82[AMR][1000 genomes]
rs12280107	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17153461	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1938593	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1945593	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2000875	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3847	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4938915	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4939260	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4939263	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4939267	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5023474	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5023475	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61689139	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6591510	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6591515	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591517	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7109866	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7111287	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113607	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121247	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7129035	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7129362	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931234	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7938115	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[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	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3351601	chr11:58979308-59052763	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3381199	chr11:59015574-59068938	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1945592	DTX4	Cis_1M	lymphoblastoid	RTeQTL
rs1945592	MPEG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59023000-59026600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:59024000-59028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:59024200-59030800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:59024200-59030800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:59025000-59027200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:59025400-59027200	Weak transcription	Monocytes-CD14+_RO01746	blood

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