Variant report

Variant	rs2268453
Chromosome Location	chr14:81441998-81441999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1035145	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11850285	0.92[ASN][1000 genomes]
rs12586161	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs12589960	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12590262	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12890859	0.91[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.86[LWK][hapmap];0.83[TSI][hapmap]
rs12892567	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2110695	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2160214	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2195101	0.81[GIH][hapmap]
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	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2284716	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2284721	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2284723	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2284725	0.93[ASN][1000 genomes]
rs2284728	0.93[ASN][1000 genomes]
rs2284729	0.85[AMR][1000 genomes]
rs2284731	0.85[AMR][1000 genomes]
rs2284732	0.85[AMR][1000 genomes]
rs2300517	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2300518	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2300520	0.86[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[ASN][1000 genomes]
rs327433	0.81[GIH][hapmap]
rs35789224	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36193909	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783944	0.83[AMR][1000 genomes]
rs3783946	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56169819	0.85[AMR][1000 genomes]
rs58729405	0.82[AMR][1000 genomes]
rs58838870	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59103962	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59627467	0.93[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	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72693081	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72693091	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8003402	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8007809	0.81[AMR][1000 genomes]
rs8022899	0.87[AMR][1000 genomes];0.91[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2268453	IZUMO1	trans	parietal	SCAN
rs2268453	C14orf4	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81434000-81442600	Genic enhancers	Dnd41	blood
2	chr14:81438800-81442000	Enhancers	Fetal Brain Male	brain
3	chr14:81439000-81442200	Enhancers	Brain Germinal Matrix	brain
4	chr14:81439000-81442400	Enhancers	Placenta	Placenta
5	chr14:81439200-81442000	Enhancers	Rectal Smooth Muscle	rectum
6	chr14:81439800-81442000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:81439800-81442200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:81439800-81442200	Enhancers	Fetal Kidney	kidney
9	chr14:81440000-81442200	Enhancers	Colon Smooth Muscle	Colon
10	chr14:81440000-81443200	Enhancers	Adipose Nuclei	Adipose
11	chr14:81440200-81442000	Enhancers	Brain Angular Gyrus	brain
12	chr14:81440600-81442200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:81440600-81443800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:81440600-81444200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr14:81440600-81444600	Weak transcription	Primary T cells from cord blood	blood
16	chr14:81440800-81442000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:81440800-81442400	Weak transcription	Psoas Muscle	Psoas
18	chr14:81440800-81442600	Enhancers	Thymus	Thymus
19	chr14:81440800-81444600	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:81441000-81442000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:81441000-81443800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:81441400-81444400	Enhancers	Fetal Thymus	thymus
23	chr14:81441600-81442000	Weak transcription	Brain Anterior Caudate	brain
24	chr14:81441800-81442200	Enhancers	Liver	Liver
25	chr14:81441800-81444000	Weak transcription	Primary T cells fromperipheralblood	blood

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