Variant report

Variant	rs812059
Chromosome Location	chr5:127079693-127079694
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	chr5:127078318..127080350-chr5:127080995..127082546,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10041967	0.87[EUR][1000 genomes]
rs10061252	0.86[EUR][1000 genomes]
rs1007623	0.87[EUR][1000 genomes]
rs10519953	0.81[EUR][1000 genomes]
rs10519960	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1086523	0.86[EUR][1000 genomes]
rs1086524	0.83[EUR][1000 genomes]
rs1086525	0.86[EUR][1000 genomes]
rs1086526	0.86[EUR][1000 genomes]
rs1086527	0.88[EUR][1000 genomes]
rs1086529	0.86[EUR][1000 genomes]
rs1086530	0.85[EUR][1000 genomes]
rs1086531	0.88[EUR][1000 genomes]
rs1086532	0.88[EUR][1000 genomes]
rs1086533	0.85[EUR][1000 genomes]
rs1086534	0.86[EUR][1000 genomes]
rs1088167	0.85[EUR][1000 genomes]
rs10900792	0.90[EUR][1000 genomes]
rs1092720	0.85[EUR][1000 genomes]
rs11241938	0.88[EUR][1000 genomes]
rs11241939	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11241942	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11950864	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11957799	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1213827	0.87[EUR][1000 genomes]
rs1228156	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1234542	0.87[EUR][1000 genomes]
rs12652197	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12653785	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1399829	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1421747	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1432958	0.88[EUR][1000 genomes]
rs1515640	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1560673	0.82[EUR][1000 genomes]
rs173580	0.87[EUR][1000 genomes]
rs173581	0.88[EUR][1000 genomes]
rs173582	0.86[EUR][1000 genomes]
rs1816404	0.87[EUR][1000 genomes]
rs1816405	0.87[EUR][1000 genomes]
rs1849938	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs187461	0.87[EUR][1000 genomes]
rs1897525	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs193736	0.88[EUR][1000 genomes]
rs248689	0.84[EUR][1000 genomes]
rs248690	0.83[EUR][1000 genomes]
rs248691	0.80[EUR][1000 genomes]
rs248692	0.84[EUR][1000 genomes]
rs248696	0.84[EUR][1000 genomes]
rs248698	0.84[EUR][1000 genomes]
rs248700	0.82[EUR][1000 genomes]
rs248701	0.84[EUR][1000 genomes]
rs248702	0.84[EUR][1000 genomes]
rs248706	0.84[EUR][1000 genomes]
rs248709	0.83[EUR][1000 genomes]
rs248711	0.88[EUR][1000 genomes]
rs248712	0.86[EUR][1000 genomes]
rs248713	0.88[EUR][1000 genomes]
rs248715	0.86[EUR][1000 genomes]
rs248716	0.89[EUR][1000 genomes]
rs248717	0.88[EUR][1000 genomes]
rs248718	0.87[EUR][1000 genomes]
rs248720	0.85[EUR][1000 genomes]
rs248721	0.85[EUR][1000 genomes]
rs248722	0.89[EUR][1000 genomes]
rs248724	0.89[EUR][1000 genomes]
rs248730	0.88[EUR][1000 genomes]
rs248731	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs248732	0.88[EUR][1000 genomes]
rs248733	0.90[EUR][1000 genomes]
rs248735	0.88[EUR][1000 genomes]
rs248737	0.87[EUR][1000 genomes]
rs248738	0.88[EUR][1000 genomes]
rs248739	0.88[EUR][1000 genomes]
rs248740	0.90[EUR][1000 genomes]
rs248741	0.88[EUR][1000 genomes]
rs248742	0.90[EUR][1000 genomes]
rs2569142	0.88[EUR][1000 genomes]
rs2569144	0.88[EUR][1000 genomes]
rs2569146	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2569148	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2673749	0.87[EUR][1000 genomes]
rs2673750	0.85[EUR][1000 genomes]
rs2673763	0.88[EUR][1000 genomes]
rs2673764	0.82[EUR][1000 genomes]
rs2673772	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4340958	0.83[EUR][1000 genomes]
rs4361571	0.86[EUR][1000 genomes]
rs45074	0.84[EUR][1000 genomes]
rs54201	0.88[EUR][1000 genomes]
rs57883466	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59513079	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62373501	0.90[EUR][1000 genomes]
rs62373502	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595789	0.89[EUR][1000 genomes]
rs7714847	0.83[EUR][1000 genomes]
rs7736233	0.82[EUR][1000 genomes]
rs790827	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs791071	0.86[EUR][1000 genomes]
rs791072	0.86[EUR][1000 genomes]
rs791073	0.85[EUR][1000 genomes]
rs791074	0.88[EUR][1000 genomes]
rs809349	0.86[EUR][1000 genomes]
rs899190	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127076000-127094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:127078400-127082600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:127079200-127080400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:127079200-127081000	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:127079600-127082600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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