Variant report

Variant	rs17188743
Chromosome Location	chr6:30385111-30385112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30384989..30387983-chr6:30390745..30393003,2	K562	blood:
2	chr6:30383090..30385437-chr6:30435518..30438208,2	K562	blood:
3	chr6:30383321..30385236-chr6:30386462..30388698,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224936	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1076832	0.83[AMR][1000 genomes]
rs10947072	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12192526	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12203825	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12205877	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12205979	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12210448	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12214298	0.81[AMR][1000 genomes]
rs12214645	0.80[AMR][1000 genomes]
rs13213174	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1362116	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17188729	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17195068	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17195089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17410877	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2023458	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2074502	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2157605	0.84[AMR][1000 genomes]
rs34111681	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34124993	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34337286	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35118048	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35764894	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4711217	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4713325	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713326	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713327	0.81[ASN][1000 genomes]
rs4713328	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6930977	0.80[AMR][1000 genomes]
rs6941668	0.81[AMR][1000 genomes]
rs7751647	0.82[AMR][1000 genomes];0.85[EUR][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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	nsv884063	chr6:30366100-30397219	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv462742	chr6:30372570-30410206	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv601477	chr6:30372570-30410206	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv884064	chr6:30375290-30396173	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
7	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
8	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17188743	HLA-DRB5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30384800-30386000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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