Variant report

Variant	rs61957980
Chromosome Location	chr13:52924996-52924997
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 185 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs1053245	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148250	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148251	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12184815	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17087405	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589286	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28756262	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34355831	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35975899	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292810	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292818	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55850688	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173235	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56249382	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57412438	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57831032	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57904860	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58655347	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60322427	1.00[ASN][1000 genomes]
rs60406129	1.00[ASN][1000 genomes]
rs61011708	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61171418	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61677410	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957307	1.00[ASN][1000 genomes]
rs61957966	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61957967	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957976	1.00[ASN][1000 genomes]
rs61957977	1.00[ASN][1000 genomes]
rs61957978	1.00[ASN][1000 genomes]
rs61957981	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957982	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957983	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957984	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957986	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957987	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957988	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957989	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957993	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957995	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957996	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957997	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958009	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958010	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958011	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958012	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958013	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958014	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958016	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958017	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958018	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958019	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958020	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958023	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958024	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958025	0.93[EUR][1000 genomes]
rs61958026	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958048	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958049	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958051	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958052	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958053	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958055	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958057	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958058	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958059	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959660	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959661	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959663	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959664	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959666	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959667	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959668	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959669	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959670	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959672	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959673	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959674	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959675	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959676	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959677	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959679	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959698	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959702	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959706	1.00[ASN][1000 genomes]
rs61959707	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61959784	1.00[ASN][1000 genomes]
rs7331858	0.87[ASN][1000 genomes]
rs7983047	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526881	0.86[ASN][1000 genomes]
rs9526882	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526888	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526890	1.00[ASN][1000 genomes]
rs9526892	1.00[ASN][1000 genomes]
rs9526895	1.00[ASN][1000 genomes]
rs9526896	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526897	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526898	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526901	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9526902	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526903	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526905	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9526906	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526908	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526909	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526910	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526915	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526916	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526924	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526926	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9535975	1.00[ASN][1000 genomes]
rs9535991	0.86[ASN][1000 genomes]
rs9536003	0.87[ASN][1000 genomes]
rs9536004	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536005	1.00[ASN][1000 genomes]
rs9536007	0.86[ASN][1000 genomes]
rs9536008	1.00[ASN][1000 genomes]
rs9536009	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536018	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536019	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536020	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536022	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536023	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536025	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536026	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536027	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536028	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536029	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536031	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536033	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536034	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536036	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536037	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536038	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536039	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9536040	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536041	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536042	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536043	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536044	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9536045	0.94[EUR][1000 genomes]
rs9536047	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536049	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536050	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536051	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536053	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536054	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536056	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536057	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536058	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536059	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536060	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536061	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536062	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536063	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536064	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536065	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536067	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536068	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536070	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536072	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536073	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536074	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536075	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536076	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536077	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536078	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536080	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536081	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536083	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536084	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536085	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536087	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9536088	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9536090	0.83[AMR][1000 genomes]
rs9536097	0.83[AMR][1000 genomes]
rs9536099	0.83[AMR][1000 genomes]
rs9596645	1.00[ASN][1000 genomes]
rs9741870	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv819887	chr13:52772113-52926921	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv900084	chr13:52835231-53119704	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv977385	chr13:52918841-52936623	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61957980	CKAP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52923200-52925000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:52923400-52929800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:52923600-52925600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:52923600-52927000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:52923600-52927200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:52923600-52930200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:52923800-52927000	Weak transcription	NHLF	lung
8	chr13:52923800-52927200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:52924000-52927000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:52924000-52927000	Weak transcription	HSMMtube	muscle
11	chr13:52924000-52927000	Weak transcription	NHDF-Ad	bronchial
12	chr13:52924000-52927200	Weak transcription	HSMM	muscle
13	chr13:52924000-52930000	Weak transcription	Hela-S3	cervix
14	chr13:52924200-52927200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:52924200-52927200	Weak transcription	NH-A	brain
16	chr13:52924400-52926400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:52924400-52926800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:52924400-52926800	Weak transcription	Osteobl	bone
19	chr13:52924400-52927000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr13:52924400-52927000	Weak transcription	HMEC	breast
21	chr13:52924400-52927000	Weak transcription	NHEK	skin
22	chr13:52924400-52927200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:52924600-52927000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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