Variant report

Variant	rs625359
Chromosome Location	chr11:93570633-93570634
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: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10765635	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11020522	0.84[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs11020532	0.94[EUR][1000 genomes]
rs11020533	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1428919	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs16919444	0.94[EUR][1000 genomes]
rs58063272	0.94[EUR][1000 genomes]
rs584084	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs585713	0.87[JPT][hapmap]
rs586293	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs58976781	0.94[EUR][1000 genomes]
rs59726694	0.94[EUR][1000 genomes]
rs601711	0.82[ASN][1000 genomes]
rs602703	0.90[ASN][1000 genomes]
rs606087	1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs61906579	0.96[EUR][1000 genomes]
rs625249	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs625685	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628665	0.93[ASN][1000 genomes]
rs631261	0.94[ASN][1000 genomes]
rs634325	0.86[ASN][1000 genomes]
rs644009	0.84[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs652621	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs655158	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs655699	0.84[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs658181	0.87[JPT][hapmap]
rs658698	0.80[ASN][1000 genomes]
rs666074	0.88[ASN][1000 genomes]
rs66963387	0.97[EUR][1000 genomes]
rs673869	0.84[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs674886	0.84[ASN][1000 genomes]
rs675441	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs676586	1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs687042	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs687507	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs7103466	0.93[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs7114611	0.94[EUR][1000 genomes]
rs7115115	0.94[EUR][1000 genomes]
rs7119738	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs7125525	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7125919	0.94[EUR][1000 genomes]
rs7126745	0.93[EUR][1000 genomes]
rs7129970	0.94[EUR][1000 genomes]
rs7924366	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.97[EUR][1000 genomes]
rs7949505	0.94[CHB][hapmap];0.80[JPT][hapmap];0.97[EUR][1000 genomes];0.93[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs625359	C11orf54	cis	Thyroid	GTEx
rs625359	C11orf54	cis	parietal	SCAN
rs625359	C11orf54	cis	Esophagus Mucosa	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93565000-93575200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:93565400-93575400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:93566200-93577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:93567800-93575600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:93570000-93572200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:93570400-93579200	Enhancers	Stomach Mucosa	stomach

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