Variant report

Variant	rs56979642
Chromosome Location	chr1:57503350-57503351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55666624	0.94[AFR][1000 genomes]
rs55841159	1.00[AFR][1000 genomes]
rs56082491	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58224442	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58997596	1.00[AFR][1000 genomes]
rs61169655	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903332	0.90[AFR][1000 genomes]
rs72903345	1.00[AFR][1000 genomes]
rs72903354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903369	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903384	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57495400-57506200	Weak transcription	Fetal Brain Female	brain
2	chr1:57496000-57533800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:57496400-57514200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:57500800-57526000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:57501200-57526200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:57502000-57503400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:57503000-57503400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:57503000-57505200	Weak transcription	Fetal Brain Male	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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