Variant report

Variant	rs12059970
Chromosome Location	chr1:221845369-221845370
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12057339	1.00[AMR][1000 genomes]
rs12068699	1.00[AMR][1000 genomes]
rs12069068	1.00[AMR][1000 genomes]
rs12074253	1.00[AMR][1000 genomes]
rs12095091	1.00[AMR][1000 genomes]
rs12095764	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55927813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55952360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56906577	1.00[AMR][1000 genomes]
rs73110844	1.00[AMR][1000 genomes]
rs74145398	1.00[AMR][1000 genomes]
rs74147814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147830	1.00[AFR][1000 genomes];1.00[AMR][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	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221841600-221848400	Weak transcription	Stomach Mucosa	stomach
2	chr1:221842200-221846000	Enhancers	HMEC	breast
3	chr1:221842600-221845800	Enhancers	NHDF-Ad	bronchial
4	chr1:221842600-221846200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:221842600-221846800	Enhancers	HSMM	muscle
6	chr1:221843000-221845600	Enhancers	Osteobl	bone
7	chr1:221843000-221846000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:221843000-221846400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:221843000-221846800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:221843000-221847600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:221843600-221847800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:221844000-221845400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:221844800-221845800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:221844800-221846000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:221845000-221846000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:221845200-221846000	Bivalent Enhancer	HUVEC	blood vessel

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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