Variant report

Variant	rs6601559
Chromosome Location	chr8:10950757-10950758
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10105315	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10108618	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113808	0.85[AMR][1000 genomes]
rs1057626	0.80[AMR][1000 genomes]
rs11773990	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11991118	0.80[AMR][1000 genomes]
rs11991716	1.00[ASN][1000 genomes]
rs17723229	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2409689	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2409691	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2409694	1.00[ASN][1000 genomes]
rs2409698	0.83[EUR][1000 genomes]
rs2409701	0.83[EUR][1000 genomes]
rs28719598	0.85[ASN][1000 genomes]
rs28722721	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898256	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2898257	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2898260	0.83[AMR][1000 genomes]
rs34094119	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4840542	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840544	0.82[AMR][1000 genomes]
rs4841489	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4841490	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4841495	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6601560	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980856	0.89[AMR][1000 genomes]
rs6982381	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991930	0.80[AMR][1000 genomes]
rs7017567	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7812573	0.85[ASN][1000 genomes]
rs7820860	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835318	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657519	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3352540	chr8:10950725-10951225	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	esv3361935	chr8:10950745-10951195	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6601559	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs6601559	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10949200-10951000	Enhancers	Stomach Mucosa	stomach
2	chr8:10950000-10955400	Weak transcription	Fetal Heart	heart
3	chr8:10950400-10951000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:10950600-10951000	Enhancers	Duodenum Mucosa	Duodenum
5	chr8:10950600-10954000	Weak transcription	Pancreas	Pancrea
6	chr8:10950600-10965000	Weak transcription	Gastric	stomach

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