Variant report

Variant	rs3128437
Chromosome Location	chr1:45729234-45729235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45716599..45723837-chr1:45726714..45733883,8	K562	blood:
2	chr1:45186275..45187906-chr1:45728961..45730546,2	K562	blood:
3	chr1:45717171..45719961-chr1:45727838..45729738,2	MCF-7	breast:
4	chr1:45722680..45725853-chr1:45727060..45729598,3	K562	blood:
5	chr1:45728448..45730333-chr1:45735366..45738285,2	MCF-7	breast:
6	chr1:45185994..45187906-chr1:45728961..45731095,3	K562	blood:
7	chr1:45724453..45726184-chr1:45728358..45730973,2	K562	blood:

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11211075	0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11211077	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11211080	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11211091	0.81[EUR][1000 genomes]
rs1143726	0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1143727	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1144866	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1144867	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1144870	0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1144871	0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1152017	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1152018	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1152020	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1152022	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11588448	0.92[EUR][1000 genomes]
rs1226722	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1226723	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1226727	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1226728	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1226736	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1226740	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1226749	0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1226911	0.88[AMR][1000 genomes]
rs1226912	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12750360	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16832411	0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1698295	0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1938298	0.81[EUR][1000 genomes]
rs1938302	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1938406	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2096436	0.81[EUR][1000 genomes]
rs2211644	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2356304	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2883902	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2997400	0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2997462	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009973	0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3009976	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3009978	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3121731	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3121768	0.81[EUR][1000 genomes]
rs3121770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3121771	0.81[EUR][1000 genomes]
rs3128443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6429558	0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6698681	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6700502	0.88[EUR][1000 genomes]
rs6702389	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs68139854	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7517524	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7528468	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7548075	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7552211	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
4	nsv998187	chr1:45677251-45732377	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45726200-45731600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:45727000-45731200	Weak transcription	HepG2	liver
3	chr1:45728000-45731600	Weak transcription	NHLF	lung
4	chr1:45728200-45731800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:45728200-45731800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:45729200-45729400	Enhancers	K562	blood
7	chr1:45729200-45731000	Weak transcription	HUVEC	blood vessel

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