Variant report

Variant	rs60078514
Chromosome Location	chr14:63697374-63697375
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10131665	1.00[EUR][1000 genomes]
rs11845716	1.00[EUR][1000 genomes]
rs11845811	1.00[EUR][1000 genomes]
rs11845913	1.00[EUR][1000 genomes]
rs1467424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17100884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17100885	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17100924	1.00[EUR][1000 genomes]
rs17100980	1.00[EUR][1000 genomes]
rs17100987	1.00[EUR][1000 genomes]
rs17100988	1.00[EUR][1000 genomes]
rs17100990	1.00[EUR][1000 genomes]
rs17100992	1.00[EUR][1000 genomes]
rs17100995	1.00[EUR][1000 genomes]
rs17101002	1.00[EUR][1000 genomes]
rs1955672	1.00[EUR][1000 genomes]
rs1957780	1.00[EUR][1000 genomes]
rs4902217	1.00[AMR][1000 genomes]
rs4902222	1.00[EUR][1000 genomes]
rs56713551	1.00[EUR][1000 genomes]
rs57714062	1.00[EUR][1000 genomes]
rs57768197	1.00[EUR][1000 genomes]
rs58737358	1.00[EUR][1000 genomes]
rs59466499	1.00[EUR][1000 genomes]
rs60068448	1.00[EUR][1000 genomes]
rs60444475	1.00[EUR][1000 genomes]
rs61302639	1.00[EUR][1000 genomes]
rs61664340	1.00[EUR][1000 genomes]
rs6573502	1.00[EUR][1000 genomes]
rs7156973	1.00[EUR][1000 genomes]
rs7157776	1.00[EUR][1000 genomes]
rs73268396	1.00[EUR][1000 genomes]
rs7342496	1.00[EUR][1000 genomes]
rs7342500	1.00[EUR][1000 genomes]
rs737571	1.00[EUR][1000 genomes]
rs74060034	1.00[EUR][1000 genomes]
rs74060038	1.00[EUR][1000 genomes]
rs74060041	1.00[EUR][1000 genomes]
rs74060043	1.00[EUR][1000 genomes]
rs74060047	1.00[AMR][1000 genomes]
rs742905	1.00[EUR][1000 genomes]
rs761550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007258	1.00[EUR][1000 genomes]
rs8010073	1.00[EUR][1000 genomes]
rs8012345	1.00[EUR][1000 genomes]
rs8014212	1.00[EUR][1000 genomes]
rs9635243	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63672000-63717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:63676200-63707600	Weak transcription	Aorta	Aorta
3	chr14:63676400-63733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:63679400-63717000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:63691200-63716800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:63691400-63712800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:63691600-63698800	Weak transcription	Fetal Heart	heart
8	chr14:63691600-63705800	Weak transcription	Fetal Stomach	stomach
9	chr14:63691600-63712400	Weak transcription	Ovary	ovary
10	chr14:63694400-63697400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:63694800-63699600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:63696200-63697400	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr14:63696200-63698400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:63696400-63697800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:63696400-63698200	Genic enhancers	HUVEC	blood vessel
16	chr14:63696600-63707600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:63696800-63707200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:63697000-63698400	Enhancers	Fetal Lung	lung
19	chr14:63697000-63704800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:63697000-63712600	Weak transcription	NH-A	brain
21	chr14:63697200-63697400	Enhancers	Right Atrium	heart

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