Variant report

Variant	rs55892947
Chromosome Location	chr11:34422869-34422870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34417375..34420835-chr11:34422366..34425189,3	K562	blood:
2	chr11:34408037..34410021-chr11:34421049..34423975,2	K562	blood:
3	chr11:34422105..34424628-chr11:34424992..34426893,2	K562	blood:

Variant related genes	Relation type
ENSG00000220204	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1008491	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10836215	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10836223	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10836230	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10836234	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11032654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032661	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11032667	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11032669	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11032670	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11032671	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11032695	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11604331	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12361866	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12790004	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12790378	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12793666	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12804506	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12804689	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12806377	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12807961	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12808450	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17352313	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34329347	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34533645	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35725681	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59090359	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61880810	1.00[ASN][1000 genomes]
rs66679411	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs873466	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs910089	0.86[AMR][1000 genomes];0.97[EUR][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	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv983151	chr11:34401342-34444667	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs55892947	ABTB2	cis	Whole Blood	GTEx
rs55892947	CAT	Cis_1M	lymphoblastoid	RTeQTL
rs55892947	CAT	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34419000-34428600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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