Variant report

Variant	rs12057749
Chromosome Location	chr1:186007512-186007513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10911800	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10911803	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10911804	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060508	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064566	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064653	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12075655	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12079349	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082436	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28403177	0.93[AFR][1000 genomes];1.00[AMR][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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
2	chr1:185964200-186014800	Weak transcription	Lung	lung
3	chr1:185985400-186023800	Weak transcription	Left Ventricle	heart
4	chr1:185993200-186023000	Weak transcription	Liver	Liver
5	chr1:186001400-186019200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:186003600-186011200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:186003800-186016000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:186004000-186015200	Weak transcription	Aorta	Aorta
9	chr1:186004200-186014800	Weak transcription	Fetal Lung	lung
10	chr1:186006600-186012200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:186007400-186048000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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