Variant report

Variant	rs12564538
Chromosome Location	chr1:55939853-55939854
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10493198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206586	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12066898	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12128309	0.97[ASN][1000 genomes]
rs12561774	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12564128	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12566453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566719	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12569322	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59432080	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61774682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61776090	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61776091	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61776092	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61776093	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61776095	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61776099	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7532502	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1008241	chr1:55922008-55972596	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:55932800-55940000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:55934600-55941400	Weak transcription	Fetal Lung	lung
3	chr1:55934800-55940200	Weak transcription	NHLF	lung
4	chr1:55937200-55944200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:55937600-55940000	Enhancers	K562	blood
6	chr1:55938000-55940200	Enhancers	HMEC	breast
7	chr1:55938000-55941000	Enhancers	Hela-S3	cervix
8	chr1:55938000-55944600	Enhancers	NHDF-Ad	bronchial
9	chr1:55938600-55943000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:55938800-55940000	Enhancers	Fetal Intestine Large	intestine
11	chr1:55938800-55940200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:55938800-55941400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:55939000-55944000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:55939200-55940400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:55939200-55942600	Enhancers	A549	lung
16	chr1:55939200-55943000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:55939400-55940200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:55939400-55941400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:55939400-55942800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:55939600-55941200	Weak transcription	Psoas Muscle	Psoas
21	chr1:55939800-55940000	Enhancers	Colon Smooth Muscle	Colon
22	chr1:55939800-55940000	Enhancers	Placenta	Placenta
23	chr1:55939800-55940400	Enhancers	Osteobl	bone
24	chr1:55939800-55940600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:55939800-55941000	Enhancers	HUVEC	blood vessel

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