Variant report

Variant	rs414475
Chromosome Location	chr5:112808617-112808618
allele	A/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:98)

rs_ID	r²[population]
rs10037429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10072577	0.82[ASN][1000 genomes]
rs1035409	0.91[ASN][1000 genomes]
rs10519354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs11241202	0.89[EUR][1000 genomes]
rs11738347	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11738587	0.89[EUR][1000 genomes]
rs11739509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11744710	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11744737	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11746529	1.00[AFR][1000 genomes]
rs11746828	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11747062	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11748646	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11750254	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11953034	0.82[ASN][1000 genomes]
rs13153791	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13160021	1.00[AFR][1000 genomes]
rs13161610	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13161969	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13162970	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13166822	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13167659	0.82[ASN][1000 genomes]
rs13171273	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13172774	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs13177178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13180262	0.82[ASN][1000 genomes]
rs13182359	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1318772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13187776	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs164252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs17325908	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17326496	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17327139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17332053	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs182988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185336	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs255857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs255859	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs255870	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs255871	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs26962	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs26965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs26980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs26982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs26984	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs26986	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs26989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs26990	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2860483	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2910017	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2914151	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2914152	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs34158516	0.82[ASN][1000 genomes]
rs34361144	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34539248	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34554590	0.82[ASN][1000 genomes]
rs34625553	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34870059	0.82[ASN][1000 genomes]
rs348919	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348921	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348922	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348923	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs348934	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348935	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348939	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35077609	1.00[AFR][1000 genomes]
rs35111059	0.89[EUR][1000 genomes]
rs35274088	0.82[ASN][1000 genomes]
rs35364742	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35451724	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35568473	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36611	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3763141	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs419483	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs421515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs458055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4705554	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4705829	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs58479323	0.82[ASN][1000 genomes]
rs6594727	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66629800	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66838021	0.82[ASN][1000 genomes]
rs67344014	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67382821	0.82[ASN][1000 genomes]
rs67767339	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67881502	1.00[AFR][1000 genomes]
rs67894881	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs68131815	0.82[ASN][1000 genomes]
rs68189049	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71577443	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71577453	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72788641	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72797916	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7703186	0.82[ASN][1000 genomes]
rs7736165	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer 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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112786200-112810000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112794800-112810000	Weak transcription	NHEK	skin
3	chr5:112807800-112821600	Weak transcription	HMEC	breast
4	chr5:112808000-112808800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:112808000-112810000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:112808200-112809800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:112808200-112809800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:112808200-112810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:112808200-112810200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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