Variant report

Variant	rs72711646
Chromosome Location	chr14:54781930-54781931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4251610	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	esv3434716	chr14:54498289-54872556	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv832801	chr14:54722015-54886773	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:54777600-54784000	Weak transcription	HepG2	liver
2	chr14:54779400-54783000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:54779400-54783400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:54779400-54785200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:54779400-54788800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:54779400-54789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:54780200-54782400	Enhancers	Brain Germinal Matrix	brain
8	chr14:54780800-54782200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:54781000-54782200	Enhancers	Fetal Brain Female	brain
10	chr14:54781000-54783400	Enhancers	Fetal Brain Male	brain
11	chr14:54781400-54784200	Weak transcription	Fetal Kidney	kidney
12	chr14:54781600-54783000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:54781800-54789000	Weak transcription	Fetal Lung	lung

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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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