Variant report

Variant	rs12089982
Chromosome Location	chr1:57138712-57138713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10437072	0.89[AFR][1000 genomes]
rs11206874	1.00[AMR][1000 genomes]
rs11206876	1.00[AMR][1000 genomes]
rs11206904	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060663	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076595	0.89[AFR][1000 genomes]
rs12081693	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086954	0.89[AFR][1000 genomes]
rs12090117	1.00[AMR][1000 genomes]
rs12094381	1.00[AMR][1000 genomes]
rs12095026	1.00[AMR][1000 genomes]
rs13376460	1.00[AMR][1000 genomes]
rs2897036	1.00[AMR][1000 genomes]
rs3991779	0.89[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57122800-57169600	Weak transcription	Ovary	ovary
2	chr1:57123000-57141800	Weak transcription	Hela-S3	cervix
3	chr1:57123000-57142000	Weak transcription	A549	lung
4	chr1:57123000-57143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:57125600-57169800	Weak transcription	Aorta	Aorta
6	chr1:57129800-57152200	Weak transcription	Psoas Muscle	Psoas
7	chr1:57135200-57140600	Enhancers	Fetal Heart	heart
8	chr1:57135400-57142000	Weak transcription	Left Ventricle	heart
9	chr1:57135400-57160200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:57136200-57140000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:57136200-57161400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:57136800-57139800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:57137000-57141600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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Input of quick search could be:

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

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