Variant report

Variant	rs12720505
Chromosome Location	chr1:186838574-186838575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12720496	1.00[EUR][1000 genomes]
rs12720500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12720562	1.00[EUR][1000 genomes]
rs12720690	1.00[EUR][1000 genomes]
rs41516146	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58494780	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58537066	0.87[AFR][1000 genomes]
rs60068409	1.00[EUR][1000 genomes]
rs6692899	1.00[EUR][1000 genomes]
rs73053092	1.00[EUR][1000 genomes]
rs7513536	1.00[EUR][1000 genomes]
rs7546816	1.00[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	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186815200-186844800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:186817800-186839000	Weak transcription	Hela-S3	cervix
3	chr1:186825400-186843600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:186829600-186839000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:186830600-186838600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:186832800-186839000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:186835400-186838600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:186835400-186843000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:186835400-186843000	Weak transcription	Osteobl	bone
10	chr1:186835600-186844800	Weak transcription	NHEK	skin
11	chr1:186835800-186842600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:186837200-186839200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:186838000-186838600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:186838400-186839400	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:186838400-186839400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:186838400-186839400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:186838400-186840600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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