Variant report

Variant	rs588523
Chromosome Location	chr11:63543353-63543354
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63534309..63537545-chr11:63542647..63545175,3	K562	blood:
2	chr11:63534655..63537545-chr11:63542647..63544390,2	K562	blood:

Variant related genes	Relation type
ENSG00000255651	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10501394	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231535	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231543	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11551942	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11551944	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820129	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1186941	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211688	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274980	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158453	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656941	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1789218	0.81[AMR][1000 genomes]
rs1789219	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509744	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959876	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959880	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959881	0.81[EUR][1000 genomes]
rs2959886	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3016865	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34109368	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35345497	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35754698	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476034	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476691	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482915	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484619	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491231	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500726	0.94[EUR][1000 genomes]
rs500991	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511819	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515645	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517700	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518490	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518692	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521464	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523093	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523809	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534505	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534876	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539306	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541809	0.89[EUR][1000 genomes]
rs550629	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551466	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557882	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559405	0.91[EUR][1000 genomes]
rs560938	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562549	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566813	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567756	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568769	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568790	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580695	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928162	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928163	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928165	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928166	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928167	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928168	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928195	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928196	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928197	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928202	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928203	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928204	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928205	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928206	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928208	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928209	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928211	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928212	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928214	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928234	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928236	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928237	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928238	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928239	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928241	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928243	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928244	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928245	0.94[EUR][1000 genomes]
rs61928246	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928247	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928248	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591821	0.97[EUR][1000 genomes]
rs6591822	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106670	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111395	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117206	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119961	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127454	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128040	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128970	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928900	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931908	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932117	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939940	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943981	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944003	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944094	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945972	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949389	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949447	0.86[EUR][1000 genomes];1.00[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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63537600-63546200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:63539400-63551400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:63539800-63546200	Weak transcription	Placenta	Placenta
4	chr11:63542200-63543600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:63542400-63543400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:63543000-63546000	Weak transcription	Fetal Lung	lung

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