Variant report

Variant	rs17010428
Chromosome Location	chr1:221794253-221794254
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	chr1:221793515..221795187-chr1:221798481..221800380,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10082031	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10082119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10449312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10495171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118769	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11118771	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12058091	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12060691	0.97[AFR][1000 genomes]
rs12063275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063464	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067974	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075242	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079769	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12081273	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12081326	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12082182	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12082815	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12082874	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12084065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086252	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12086291	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12088112	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12089796	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12092891	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12093053	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12094911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095828	1.00[CEU][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12095905	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376358	0.88[EUR][1000 genomes]
rs17010395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010397	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010463	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1973728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28515661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56971545	1.00[EUR][1000 genomes]
rs57255089	1.00[EUR][1000 genomes]
rs58173559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58482927	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59383649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59680640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59837278	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60152531	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60217573	1.00[EUR][1000 genomes]
rs61079406	1.00[EUR][1000 genomes]
rs61221236	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73117552	0.88[EUR][1000 genomes]
rs74145360	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145363	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145364	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145365	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145366	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145367	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145373	0.97[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs74145375	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145376	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs74145378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74145394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145400	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9308402	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1011037	chr1:221756526-221809552	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221793600-221794400	Active TSS	Liver	Liver
2	chr1:221793600-221795200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:221793800-221794600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:221793800-221794600	Enhancers	Brain Germinal Matrix	brain
5	chr1:221793800-221795000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:221794000-221794800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:221794000-221794800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:221794000-221794800	Flanking Active TSS	A549	lung
9	chr1:221794000-221794800	Enhancers	HMEC	breast
10	chr1:221794000-221795000	Enhancers	Hela-S3	cervix
11	chr1:221794000-221795000	Enhancers	NHEK	skin
12	chr1:221794000-221795200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:221794000-221795400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:221794200-221794600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:221794200-221794600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:221794200-221794600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:221794200-221794600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:221794200-221794600	Enhancers	Colon Smooth Muscle	Colon
19	chr1:221794200-221794600	Enhancers	Fetal Lung	lung
20	chr1:221794200-221794800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:221794200-221794800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:221794200-221794800	Enhancers	Psoas Muscle	Psoas
23	chr1:221794200-221794800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:221794200-221795000	Enhancers	Skeletal Muscle Male	skeletal muscle

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