Variant report

Variant	rs12063378
Chromosome Location	chr1:172878422-172878423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11799419	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808521	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060919	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065966	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070646	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077150	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085777	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845072	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845082	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845125	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1811833	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394470	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28803204	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28803577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28865614	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56385939	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57440247	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57583107	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60905087	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983514	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3587	chr1:172836950-172882218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172875200-172878600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:172876600-172878600	Weak transcription	HSMMtube	muscle
3	chr1:172876800-172878600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:172876800-172878800	Enhancers	HUVEC	blood vessel
5	chr1:172878000-172880000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:172878400-172878600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:172878400-172878600	Flanking Active TSS	NH-A	brain
8	chr1:172878400-172879000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:172878400-172879400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:172878400-172879400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:172878400-172879400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:172878400-172879400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:172878400-172879600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:172878400-172879600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:172878400-172879600	Enhancers	Hela-S3	cervix
16	chr1:172878400-172879600	Enhancers	HMEC	breast
17	chr1:172878400-172879600	Enhancers	HSMM	muscle
18	chr1:172878400-172879600	Enhancers	NHDF-Ad	bronchial
19	chr1:172878400-172879600	Enhancers	NHEK	skin
20	chr1:172878400-172879600	Enhancers	NHLF	lung
21	chr1:172878400-172879600	Enhancers	Osteobl	bone
22	chr1:172878400-172879800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:172878400-172880000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:172878400-172880000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:172878400-172880000	Flanking Active TSS	A549	lung

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