Variant report

Variant	rs601711
Chromosome Location	chr11:93564393-93564394
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	chr11:93561270..93566142-chr11:93569079..93572564,4	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10831102	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11020521	0.91[EUR][1000 genomes]
rs11020522	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1284102	0.80[EUR][1000 genomes]
rs1284108	0.80[EUR][1000 genomes]
rs1428919	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2434984	0.81[EUR][1000 genomes]
rs2848477	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4753103	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs585713	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs586293	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs598376	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs598427	0.81[ASN][1000 genomes]
rs602242	0.80[EUR][1000 genomes]
rs602665	0.80[EUR][1000 genomes]
rs602703	0.83[ASN][1000 genomes]
rs606462	0.80[EUR][1000 genomes]
rs606749	0.80[EUR][1000 genomes]
rs616876	0.80[EUR][1000 genomes]
rs621355	0.80[EUR][1000 genomes]
rs622147	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs625249	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs625359	0.82[ASN][1000 genomes]
rs628661	0.80[EUR][1000 genomes]
rs628665	0.87[ASN][1000 genomes]
rs630811	0.80[EUR][1000 genomes]
rs631177	0.80[EUR][1000 genomes]
rs631261	0.87[ASN][1000 genomes]
rs631705	0.80[EUR][1000 genomes]
rs640864	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs644009	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs644535	0.80[EUR][1000 genomes]
rs652621	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs655158	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs655699	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs658181	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs658698	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs658797	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs659877	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs666074	0.81[ASN][1000 genomes]
rs666136	0.80[EUR][1000 genomes]
rs670871	0.80[EUR][1000 genomes]
rs673869	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675441	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs675501	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs687042	0.85[ASN][1000 genomes]
rs687507	0.83[ASN][1000 genomes]
rs688634	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs601711	C11orf54	cis	Skin Sun Exposed Lower leg	GTEx
rs601711	C11orf54	cis	Nerve Tibial	GTEx
rs601711	C11orf54	cis	brain	BrainEAC
rs601711	C11orf54	cis	Adipose Subcutaneous	GTEx
rs601711	C11orf54	cis	thalamus	BrainEAC
rs601711	C11orf54	cis	Heart Left Ventricle	GTEx
rs601711	C11orf54	cis	multi-tissue	Pritchard
rs601711	C11orf54	cis	Artery Aorta	GTEx
rs601711	C11orf54	cis	Esophagus Muscularis	GTEx
rs601711	C11orf54	cis	Muscle Skeletal	GTEx
rs601711	C11orf54	cis	Esophagus Mucosa	GTEx
rs601711	C11orf54	cis	Stomach	GTEx
rs601711	C11orf54	cis	Artery Tibial	GTEx
rs601711	C11orf54	Cis_1M	lymphoblastoid	RTeQTL
rs601711	C11orf54	cis	lung	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93546400-93566200	Weak transcription	Brain Angular Gyrus	brain
2	chr11:93550800-93564400	Weak transcription	Pancreas	Pancrea
3	chr11:93554200-93567200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:93555600-93564400	Weak transcription	Fetal Intestine Small	intestine
5	chr11:93562800-93565000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:93562800-93565400	Enhancers	Stomach Mucosa	stomach
7	chr11:93563600-93564600	Weak transcription	HepG2	liver
8	chr11:93563600-93564800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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