Variant report

Variant	rs2110695
Chromosome Location	chr14:81438498-81438499
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	chr14:81437706..81439686-chr14:81442892..81444755,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1035145	1.00[CEU][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11850285	0.83[ASN][1000 genomes]
rs12147744	0.90[JPT][hapmap]
rs12586161	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs12587367	0.83[JPT][hapmap]
rs12587883	0.81[GIH][hapmap]
rs12589960	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12590262	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12890859	0.82[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap]
rs12892567	0.82[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs2160214	1.00[CEU][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2268453	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2268462	0.83[AMR][1000 genomes]
rs2268463	0.83[AMR][1000 genomes]
rs2268464	0.83[AMR][1000 genomes]
rs2268465	0.81[AMR][1000 genomes]
rs2284715	0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs2284716	0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs2284721	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2284723	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2284725	0.84[ASN][1000 genomes]
rs2284728	0.84[ASN][1000 genomes]
rs2284729	0.85[AMR][1000 genomes]
rs2284731	0.85[AMR][1000 genomes]
rs2284732	0.85[AMR][1000 genomes]
rs2300517	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2300518	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2300520	0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.82[ASN][1000 genomes]
rs35789224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36193909	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3742720	0.81[GIH][hapmap]
rs3783944	0.83[AMR][1000 genomes]
rs3783946	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56169819	0.85[AMR][1000 genomes]
rs58729405	0.82[AMR][1000 genomes]
rs58838870	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59103962	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59627467	0.84[ASN][1000 genomes]
rs67130762	0.85[AMR][1000 genomes]
rs67256654	0.85[AMR][1000 genomes]
rs67391693	0.83[AMR][1000 genomes]
rs68104217	0.85[AMR][1000 genomes]
rs7149900	0.85[AMR][1000 genomes]
rs7150082	0.83[AMR][1000 genomes]
rs7154106	0.85[AMR][1000 genomes]
rs7154821	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693081	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72693091	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8003402	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8007809	0.81[AMR][1000 genomes]
rs8022899	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2110695	IZUMO1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81434000-81442600	Genic enhancers	Dnd41	blood
2	chr14:81436200-81440200	Enhancers	Thymus	Thymus
3	chr14:81436600-81440400	Enhancers	Fetal Thymus	thymus
4	chr14:81438000-81438800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:81438400-81439200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:81438400-81439800	Weak transcription	Stomach Smooth Muscle	stomach

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