Variant report

Variant	rs55853308
Chromosome Location	chr14:66848096-66848097
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs17182539	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17182546	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17780128	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17780202	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1902645	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55661543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760399	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55793405	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55868383	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55979515	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56041119	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173717	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56184700	1.00[ASN][1000 genomes]
rs56321745	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56398638	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722422	0.83[AMR][1000 genomes]
rs72722425	0.83[AMR][1000 genomes]
rs72722485	0.82[AMR][1000 genomes]
rs72722491	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72722492	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72722495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722500	0.83[AMR][1000 genomes]
rs72724503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724512	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724517	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724518	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724532	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724545	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724549	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724552	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724558	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724563	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724569	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724570	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724583	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724584	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724588	1.00[ASN][1000 genomes]
rs72724589	1.00[ASN][1000 genomes]
rs72724597	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724599	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726403	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv1046455	chr14:66345369-66848234	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv983837	chr14:66619600-67014519	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers 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	19 gene(s)	inside rSNPs	diseases
9	nsv933275	chr14:66649843-67024881	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66840600-66851000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:66842200-66848600	Weak transcription	Fetal Brain Female	brain
3	chr14:66842400-66850800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:66845400-66850600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:66846000-66849800	Enhancers	Brain Anterior Caudate	brain
6	chr14:66846600-66848400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:66846800-66849400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:66846800-66855400	Weak transcription	Esophagus	oesophagus
9	chr14:66847200-66849000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:66847200-66849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:66847200-66849400	Weak transcription	HMEC	breast
12	chr14:66847200-66849400	Weak transcription	NHEK	skin
13	chr14:66847200-66849600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:66847200-66850200	Weak transcription	Fetal Kidney	kidney
15	chr14:66847400-66849200	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:66847400-66850600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:66847600-66848600	Weak transcription	Ovary	ovary
18	chr14:66847600-66848800	Weak transcription	Right Atrium	heart
19	chr14:66847600-66849400	Weak transcription	Adipose Nuclei	Adipose
20	chr14:66847600-66849400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:66847600-66849800	Weak transcription	Pancreas	Pancrea
22	chr14:66847600-66850000	Weak transcription	Left Ventricle	heart
23	chr14:66847800-66848200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:66847800-66848200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:66847800-66849000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:66847800-66849800	Weak transcription	Brain Germinal Matrix	brain

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