Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93549611..93555766-chr11:93556424..93562226,8	K562	blood:

Variant related genes	Relation type
ENSG00000214376	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11020522	0.81[ASN][1000 genomes]
rs11020533	0.89[ASN][1000 genomes]
rs1298531	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs601711	0.81[ASN][1000 genomes]
rs601792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs602703	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs606087	0.85[ASN][1000 genomes]
rs61906576	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs625359	0.88[ASN][1000 genomes]
rs626216	0.91[EUR][1000 genomes]
rs628665	0.92[ASN][1000 genomes]
rs631261	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs634325	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs636482	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs644009	0.81[ASN][1000 genomes]
rs654896	0.84[AMR][1000 genomes]
rs655699	0.81[ASN][1000 genomes]
rs66887806	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs673869	0.81[ASN][1000 genomes]
rs674886	0.86[ASN][1000 genomes]
rs676586	0.85[ASN][1000 genomes]
rs677019	0.84[AMR][1000 genomes]
rs679241	0.84[AMR][1000 genomes]
rs687042	0.90[ASN][1000 genomes]
rs687507	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7949505	0.90[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs666074	C11orf54	cis	Esophagus Mucosa	GTEx
rs666074	MED17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 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	chr11:93554800-93562800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:93555600-93564400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:93556000-93562200	Weak transcription	Stomach Mucosa	stomach

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