Variant report

Variant	rs72468062
Chromosome Location	chr1:210062857-210062858
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	chr1:210062213..210064340-chr1:210071248..210073930,2	K562	blood:
2	chr1:210059417..210061400-chr1:210062480..210065007,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12561877	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12563982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565234	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12565533	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12566616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567184	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12567185	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12569195	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28866038	0.94[ASN][1000 genomes]
rs35163211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57891047	1.00[AMR][1000 genomes]
rs72468060	1.00[AMR][1000 genomes]
rs72649911	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72649922	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649926	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649927	1.00[AMR][1000 genomes]
rs72649928	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649929	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649930	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649931	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649932	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649933	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649934	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649935	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649936	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649939	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649941	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649942	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649943	1.00[AMR][1000 genomes]
rs72649944	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649945	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649946	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649947	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649950	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649951	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9919217	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210058000-210064000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:210058600-210063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:210058800-210064000	Weak transcription	HUVEC	blood vessel
4	chr1:210059400-210063400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:210059800-210063600	Weak transcription	NHDF-Ad	bronchial
6	chr1:210059800-210064000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:210059800-210064000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:210060200-210063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:210060200-210063600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:210060200-210064000	Weak transcription	HSMM	muscle
11	chr1:210060200-210064000	Weak transcription	NH-A	brain
12	chr1:210060400-210063200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:210060400-210063200	Weak transcription	HMEC	breast
14	chr1:210060400-210063200	Weak transcription	NHEK	skin
15	chr1:210060400-210066800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:210060600-210064000	Weak transcription	Hela-S3	cervix
17	chr1:210060600-210068200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:210062400-210066400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:210062600-210063800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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