Variant report

Variant	rs7144418
Chromosome Location	chr14:79910047-79910048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11848998	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs12147236	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12147614	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17109199	1.00[CHB][hapmap]
rs17109211	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs17109214	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs17109218	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs17109224	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs17109231	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs17109236	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs17109240	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs17109242	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs61993137	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61993139	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61993140	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61993141	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61993159	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61995163	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61995166	0.88[EUR][1000 genomes]
rs7148714	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs8017403	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs8022379	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530072	chr14:79769657-79928269	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79903400-79910200	Weak transcription	Fetal Stomach	stomach
2	chr14:79903600-79911800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:79906600-79927000	Weak transcription	Aorta	Aorta
4	chr14:79908200-79910600	Enhancers	Colon Smooth Muscle	Colon
5	chr14:79908400-79910800	Enhancers	Fetal Lung	lung
6	chr14:79908600-79910600	Enhancers	Rectal Smooth Muscle	rectum
7	chr14:79909000-79910200	Active TSS	Stomach Smooth Muscle	stomach
8	chr14:79909600-79912200	Weak transcription	Psoas Muscle	Psoas
9	chr14:79910000-79911000	Enhancers	HSMMtube	muscle

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