Variant report

Variant	rs248718
Chromosome Location	chr5:127021863-127021864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10041967	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10061252	0.94[EUR][1000 genomes]
rs1007623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10519953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1086523	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1086524	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1086525	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1086526	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1086527	0.96[EUR][1000 genomes]
rs1086529	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1086530	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1086531	0.96[EUR][1000 genomes]
rs1086532	0.96[EUR][1000 genomes]
rs1086533	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1086534	0.93[EUR][1000 genomes]
rs1088167	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10900792	0.96[EUR][1000 genomes]
rs1092720	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11241938	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11241939	0.94[EUR][1000 genomes]
rs11950864	0.95[CEU][hapmap]
rs1213827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1228156	0.82[EUR][1000 genomes]
rs1234542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12652197	0.96[EUR][1000 genomes]
rs12653785	0.81[EUR][1000 genomes]
rs1432958	0.96[EUR][1000 genomes]
rs1515640	0.83[EUR][1000 genomes]
rs1560673	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs173580	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs173581	0.95[EUR][1000 genomes]
rs173582	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1816404	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1816405	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs187461	0.95[EUR][1000 genomes]
rs1897525	0.82[EUR][1000 genomes]
rs193736	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248689	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs248690	0.91[EUR][1000 genomes]
rs248691	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs248692	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs248696	0.92[EUR][1000 genomes]
rs248698	0.92[EUR][1000 genomes]
rs248700	0.90[EUR][1000 genomes]
rs248701	0.91[EUR][1000 genomes]
rs248702	0.91[EUR][1000 genomes]
rs248706	0.91[EUR][1000 genomes]
rs248709	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs248711	0.96[EUR][1000 genomes]
rs248712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs248713	0.96[EUR][1000 genomes]
rs248715	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs248716	0.97[EUR][1000 genomes]
rs248717	0.95[EUR][1000 genomes]
rs248720	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs248721	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs248722	0.97[EUR][1000 genomes]
rs248724	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs248730	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248731	0.96[EUR][1000 genomes]
rs248732	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248733	0.96[EUR][1000 genomes]
rs248735	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248737	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248738	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248739	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248740	0.96[EUR][1000 genomes]
rs248741	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248742	0.96[EUR][1000 genomes]
rs2569142	0.96[EUR][1000 genomes]
rs2569144	0.96[EUR][1000 genomes]
rs2569146	0.82[EUR][1000 genomes]
rs2673749	0.95[EUR][1000 genomes]
rs2673750	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2673763	0.95[EUR][1000 genomes]
rs2673764	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2673772	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4340958	0.91[EUR][1000 genomes]
rs4361571	0.94[EUR][1000 genomes]
rs45074	0.91[EUR][1000 genomes]
rs54201	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59513079	0.82[EUR][1000 genomes]
rs62373501	0.96[EUR][1000 genomes]
rs62373502	0.95[EUR][1000 genomes]
rs6595789	0.97[EUR][1000 genomes]
rs7714847	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7736233	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs790827	0.89[EUR][1000 genomes]
rs791071	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs791072	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs791073	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs791074	0.96[EUR][1000 genomes]
rs809349	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs812059	0.87[EUR][1000 genomes]
rs899190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127002800-127022200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:127019000-127022200	Weak transcription	Ovary	ovary
3	chr5:127019800-127022200	Weak transcription	Psoas Muscle	Psoas
4	chr5:127020400-127023000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:127020600-127022000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:127020600-127022400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr5:127020800-127022200	Enhancers	HMEC	breast
8	chr5:127021000-127022000	Enhancers	Hela-S3	cervix
9	chr5:127021000-127022200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:127021000-127022400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:127021200-127022000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:127021200-127022000	Weak transcription	Fetal Lung	lung
13	chr5:127021400-127022000	Enhancers	Brain Hippocampus Middle	brain
14	chr5:127021600-127022400	Enhancers	HUVEC	blood vessel

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