Variant report

Variant	rs55748376
Chromosome Location	chr14:78404425-78404426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11159310	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12587141	0.86[ASN][1000 genomes]
rs17753430	0.84[AMR][1000 genomes]
rs2287653	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2302944	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3783954	0.94[ASN][1000 genomes]
rs3783955	0.94[ASN][1000 genomes]
rs4020126	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4020127	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7141888	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7145542	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34345	chr14:78370455-78496587	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2757576	chr14:78379156-78502019	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759999	chr14:78379156-78502019	Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr14:78349200-78407200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:78400000-78404800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:78400200-78404800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:78400600-78405200	Weak transcription	Brain Substantia Nigra	brain
5	chr14:78400600-78407400	Weak transcription	Brain Angular Gyrus	brain
6	chr14:78400800-78405400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:78401000-78405200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:78402400-78404600	Weak transcription	Ovary	ovary
9	chr14:78402400-78406200	Weak transcription	Liver	Liver
10	chr14:78402600-78406800	Weak transcription	Right Ventricle	heart
11	chr14:78402800-78405800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:78403000-78405600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:78403000-78407000	Weak transcription	Brain Hippocampus Middle	brain

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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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