Variant report

Variant	rs1014500
Chromosome Location	chr11:93934723-93934724
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	chr11:93932886..93934765-chr11:93936534..93938531,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1014499	0.86[AFR][1000 genomes]
rs10444216	0.81[AMR][1000 genomes]
rs1046805	0.91[MEX][hapmap];0.83[AMR][1000 genomes]
rs1046812	0.86[MEX][hapmap];0.83[AMR][1000 genomes]
rs1070	0.91[MEX][hapmap];0.85[AMR][1000 genomes]
rs10765655	0.80[AMR][1000 genomes]
rs10765660	0.83[AFR][1000 genomes]
rs10831174	0.88[AFR][1000 genomes]
rs11020675	0.83[AMR][1000 genomes]
rs11605491	0.83[AMR][1000 genomes]
rs12366039	0.88[AFR][1000 genomes]
rs12792677	0.88[AFR][1000 genomes]
rs12808853	0.88[AFR][1000 genomes]
rs1540177	0.83[AMR][1000 genomes]
rs16920011	0.83[AMR][1000 genomes]
rs1789650	0.83[AMR][1000 genomes]
rs1789653	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1792634	0.84[CEU][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1857681	0.83[AMR][1000 genomes]
rs1893808	0.84[AMR][1000 genomes]
rs1893809	0.84[AMR][1000 genomes]
rs3020015	0.81[AMR][1000 genomes]
rs3020017	0.82[AMR][1000 genomes]
rs581771	0.81[AFR][1000 genomes]
rs689315	0.80[AFR][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1014500	C11orf54	cis	parietal	SCAN
rs1014500	PANX1	cis	lymphoblastoid	seeQTL
rs1014500	SCARNA9	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93920400-93937800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:93926800-93938800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:93929400-93935400	Enhancers	NHLF	lung
4	chr11:93930400-93935200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:93932000-93936400	Enhancers	HepG2	liver
6	chr11:93934000-93934800	Flanking Active TSS	NHDF-Ad	bronchial
7	chr11:93934200-93934800	Flanking Active TSS	A549	lung
8	chr11:93934200-93935000	Enhancers	Fetal Kidney	kidney
9	chr11:93934200-93935200	Enhancers	HSMMtube	muscle
10	chr11:93934200-93935400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:93934200-93937200	Enhancers	Fetal Lung	lung
12	chr11:93934400-93934800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:93934400-93935200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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