Variant report

Variant	rs59693725
Chromosome Location	chr14:80016382-80016383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11847465	1.00[AFR][1000 genomes]
rs12587614	0.97[ASN][1000 genomes]
rs12587752	0.86[ASN][1000 genomes]
rs17109418	0.99[ASN][1000 genomes]
rs17109448	0.98[ASN][1000 genomes]
rs17109473	0.98[ASN][1000 genomes]
rs17109557	0.89[ASN][1000 genomes]
rs17109577	0.87[ASN][1000 genomes]
rs58357059	0.84[AFR][1000 genomes]
rs59078244	0.84[AFR][1000 genomes]
rs59472910	0.87[AFR][1000 genomes]
rs60734338	0.96[AFR][1000 genomes]
rs61002775	1.00[AFR][1000 genomes]
rs61029849	0.87[AFR][1000 genomes]
rs74068052	1.00[AFR][1000 genomes]
rs74068054	1.00[AFR][1000 genomes]
rs74068066	1.00[AFR][1000 genomes]
rs74068069	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr14:80009600-80018000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:80010400-80018000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:80010800-80019000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:80011000-80018800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:80014400-80037800	Weak transcription	Aorta	Aorta
7	chr14:80015200-80016400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:80015600-80016400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:80015800-80016400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:80015800-80021000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr14:80016000-80017600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:80016000-80019200	Weak transcription	NH-A	brain
13	chr14:80016200-80017200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:80016200-80018000	Weak transcription	H1 BMP4 Derived Trophoblast 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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