Variant report

Variant	rs12754054
Chromosome Location	chr1:57537062-57537063
allele	A/G
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:12)

rs_ID	r²[population]
rs12137287	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12731670	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12759721	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1359735	0.86[AMR][1000 genomes]
rs17114917	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs35512026	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs523285	0.88[AMR][1000 genomes]
rs529122	0.86[AMR][1000 genomes]
rs533532	0.86[AMR][1000 genomes]
rs6657073	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7529536	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs844329	0.82[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57530800-57548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57533000-57538400	Weak transcription	Fetal Brain Female	brain
3	chr1:57533600-57538400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:57533800-57537800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:57534000-57551000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:57534000-57552600	Weak transcription	Fetal Intestine Large	intestine
7	chr1:57534200-57538000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:57534200-57538200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:57536600-57537400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:57537000-57537800	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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