Variant report

Variant	rs60339939
Chromosome Location	chr14:79104527-79104528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10483909	0.90[EUR][1000 genomes]
rs10483910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1558954	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17094080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17107940	0.90[EUR][1000 genomes]
rs17107945	0.90[EUR][1000 genomes]
rs17107950	0.90[EUR][1000 genomes]
rs17107955	0.90[EUR][1000 genomes]
rs17107963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17107972	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17107982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17107998	1.00[EUR][1000 genomes]
rs17757034	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17835469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17835493	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55853427	0.83[EUR][1000 genomes]
rs57609667	0.90[EUR][1000 genomes]
rs59429125	0.90[EUR][1000 genomes]
rs60501605	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61314717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61976090	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61976091	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61976094	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61976095	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61976097	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61976098	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61976099	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61976100	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61976101	0.90[EUR][1000 genomes]
rs61976102	0.90[EUR][1000 genomes]
rs61976103	0.90[EUR][1000 genomes]
rs61976104	0.90[EUR][1000 genomes]
rs61976105	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61976106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61976107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61976109	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61976112	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61976113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61976114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61976115	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61976117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976120	0.86[EUR][1000 genomes]
rs61976134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976137	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976140	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61976142	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976143	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61976144	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61976145	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72683546	0.93[EUR][1000 genomes]
rs72683554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72683556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72683559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72683565	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72683567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683573	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8019422	0.85[EUR][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	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34435	chr14:79055398-79111151	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv2757578	chr14:79055398-79140536	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1367	chr14:79067521-79106387	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79100600-79104600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr14:79100800-79104600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:79100800-79105000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:79100800-79105200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:79102200-79105200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:79103200-79104600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:79104000-79105600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:79104200-79106000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:79104200-79107800	Weak transcription	Brain Germinal Matrix	brain
10	chr14:79104400-79104600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr14:79104400-79104800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:79104400-79106200	Enhancers	HUES64 Cell Line	embryonic stem cell

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