Variant report

Variant	rs57015259
Chromosome Location	chr1:192698827-192698828
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10489518	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12733584	0.80[AFR][1000 genomes]
rs12757567	0.86[AFR][1000 genomes]
rs16834690	0.83[AFR][1000 genomes]
rs16834693	0.83[AFR][1000 genomes]
rs16834698	0.81[AFR][1000 genomes]
rs16834703	0.80[AFR][1000 genomes]
rs16834706	0.83[AFR][1000 genomes]
rs34348864	0.86[AFR][1000 genomes]
rs34624213	0.83[AFR][1000 genomes]
rs34987447	0.83[AFR][1000 genomes]
rs35431149	0.86[AFR][1000 genomes]
rs35555343	0.81[AFR][1000 genomes]
rs55700255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61223354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673110	0.86[AFR][1000 genomes]
rs71639172	0.87[AFR][1000 genomes]
rs71639173	0.87[AFR][1000 genomes]
rs74130457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130458	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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192694600-192699000	Weak transcription	Aorta	Aorta
2	chr1:192696400-192699000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:192697400-192701000	Enhancers	Fetal Lung	lung
4	chr1:192697800-192699400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:192698200-192699000	Enhancers	Left Ventricle	heart
6	chr1:192698600-192699000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:192698600-192699200	Enhancers	HSMMtube	muscle
8	chr1:192698600-192700000	Enhancers	Fetal Heart	heart
9	chr1:192698800-192699400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:192698800-192699400	Enhancers	Adipose Nuclei	Adipose
11	chr1:192698800-192699400	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:192698800-192699400	Enhancers	Brain Hippocampus Middle	brain

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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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