Variant report

Variant	rs1148434
Chromosome Location	chr12:106580623-106580624
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1148436	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1318909	0.83[EUR][1000 genomes]
rs1318910	0.83[EUR][1000 genomes]
rs1427787	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1427789	0.84[EUR][1000 genomes]
rs1427790	0.84[EUR][1000 genomes]
rs2047546	0.84[EUR][1000 genomes]
rs2059770	0.86[EUR][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	nsv1040534	chr12:106528394-106619175	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106573000-106581000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:106573000-106582000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:106574600-106581000	Weak transcription	Ovary	ovary
4	chr12:106574600-106587000	Weak transcription	Psoas Muscle	Psoas
5	chr12:106577600-106581000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:106579000-106582000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:106579400-106583200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:106580000-106585400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:106580600-106581000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:106580600-106582000	Enhancers	HepG2	liver
11	chr12:106580600-106583600	Enhancers	H9 Derived Neuron 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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