Variant report

Variant	rs602703
Chromosome Location	chr11:93563272-93563273
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: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11020522	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11020533	0.91[ASN][1000 genomes]
rs1298531	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs1428919	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs584084	0.87[CEU][hapmap]
rs585713	0.81[JPT][hapmap]
rs586293	0.84[CHB][hapmap]
rs601711	0.83[ASN][1000 genomes]
rs601792	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs606087	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.86[ASN][1000 genomes]
rs61906576	0.97[EUR][1000 genomes]
rs625249	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs625359	0.90[ASN][1000 genomes]
rs625685	0.87[CEU][hapmap]
rs626216	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs628665	0.94[ASN][1000 genomes]
rs631261	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs634325	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs636482	0.88[EUR][1000 genomes]
rs644009	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs652621	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs655158	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs655699	0.84[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs658181	0.81[JPT][hapmap]
rs658698	0.81[ASN][1000 genomes]
rs664257	0.91[GIH][hapmap];0.80[TSI][hapmap]
rs666074	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66887806	0.92[EUR][1000 genomes]
rs669565	0.96[GIH][hapmap]
rs673869	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs674886	0.85[ASN][1000 genomes]
rs675441	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs676586	1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.86[ASN][1000 genomes]
rs677019	0.88[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs679241	0.86[CEU][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap]
rs687042	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs687507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103466	0.93[CEU][hapmap]
rs7119738	1.00[CEU][hapmap]
rs7924366	0.93[CEU][hapmap]
rs7949505	0.94[CHB][hapmap];0.86[JPT][hapmap];0.92[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
rs602703	C11orf54	cis	cerebellum	SCAN
rs602703	C11orf54	cis	parietal	SCAN

Chromatin state (count:9 , 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	chr11:93560600-93563600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:93562800-93563600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr11:93562800-93565000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:93562800-93565400	Enhancers	Stomach Mucosa	stomach
9	chr11:93563200-93563400	Enhancers	HepG2	liver

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