Variant report

Variant	rs74106065
Chromosome Location	chr12:83508292-83508293
allele	A/C
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:2)

rs_ID	r²[population]
rs55707483	1.00[AFR][1000 genomes]
rs74106066	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:83492600-83515800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83496400-83509000	Weak transcription	Fetal Lung	lung
3	chr12:83500000-83515200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:83502400-83515600	Weak transcription	Fetal Stomach	stomach
5	chr12:83503600-83515800	Weak transcription	Fetal Brain Male	brain
6	chr12:83507600-83508400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:83507800-83508400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:83507800-83515400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:83508000-83511200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:83508200-83513400	Weak transcription	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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