Variant report

Variant	rs394854
Chromosome Location	chr12:124601014-124601015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10734910	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744164	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs372201	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs412230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427244	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825515	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1799776	chr12:124594370-124614538	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124599600-124601800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:124600200-124602200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:124600400-124601200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:124600400-124601200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:124600400-124601600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:124600400-124602000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:124600400-124602000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:124600400-124602400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:124600600-124601800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:124600800-124603600	Weak transcription	Fetal Stomach	stomach
11	chr12:124600800-124607800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:124601000-124601200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:124601000-124601800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:124601000-124601800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:124601000-124605400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:124601000-124615200	Weak transcription	H9 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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