Variant report

Variant	rs1793957
Chromosome Location	chr12:48392824-48392825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10875716	1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11168343	0.82[AMR][1000 genomes]
rs7971880	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48382800-48394600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:48383800-48393800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:48383800-48394400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48390000-48395000	Weak transcription	Right Atrium	heart
5	chr12:48390400-48394600	Weak transcription	Left Ventricle	heart
6	chr12:48390400-48394600	Weak transcription	Right Ventricle	heart
7	chr12:48391200-48394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:48391600-48393000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr12:48391600-48393200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:48391600-48394600	Weak transcription	Placenta	Placenta
11	chr12:48392600-48393000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr12:48392800-48393800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:48392800-48394000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:48392800-48394200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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