Variant report

Variant	rs2156627
Chromosome Location	chr11:93953334-93953335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93945976..93948199-chr11:93951746..93953756,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1014499	0.98[EUR][1000 genomes]
rs10458852	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10765657	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10765658	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10765660	0.98[EUR][1000 genomes]
rs10831169	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10831173	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10831174	0.95[EUR][1000 genomes]
rs10831176	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10831184	0.95[EUR][1000 genomes]
rs11020678	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11020679	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11020703	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11020719	0.87[EUR][1000 genomes]
rs12366039	0.98[EUR][1000 genomes]
rs12792677	0.98[EUR][1000 genomes]
rs12803129	0.80[EUR][1000 genomes]
rs12808853	0.98[EUR][1000 genomes]
rs1361929	0.83[EUR][1000 genomes]
rs1541301	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16920039	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1789652	0.97[EUR][1000 genomes]
rs1792632	0.84[EUR][1000 genomes]
rs1857680	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1944436	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2000956	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3020004	0.91[EUR][1000 genomes]
rs3020016	0.89[EUR][1000 genomes]
rs4597032	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4753131	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4753132	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs480710	0.95[EUR][1000 genomes]
rs581771	0.95[EUR][1000 genomes]
rs613234	0.95[EUR][1000 genomes]
rs655358	0.87[EUR][1000 genomes]
rs689315	0.95[EUR][1000 genomes]
rs7115129	0.82[EUR][1000 genomes]
rs7118270	0.95[EUR][1000 genomes]
rs7130456	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7927338	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7927496	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7936241	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7944234	0.81[EUR][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	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1038294	chr11:93918837-93982605	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2156627	RP11-680H20.2	cis	Artery Tibial	GTEx
rs2156627	RP11-680H20.2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93952000-93953400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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