Variant report

Variant	rs228126
Chromosome Location	chr14:81338612-81338613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10137041	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141970	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142753	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144692	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625199	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11627934	0.84[ASN][1000 genomes]
rs1197467	0.82[ASN][1000 genomes]
rs12050342	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437260	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs170595	0.82[ASN][1000 genomes]
rs170596	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615020	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797671	0.82[ASN][1000 genomes]
rs1863765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1863766	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010847	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs228119	0.86[ASN][1000 genomes]
rs228122	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228124	0.84[ASN][1000 genomes]
rs228128	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288347	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371420	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2371421	0.84[ASN][1000 genomes]
rs2556603	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556604	0.84[ASN][1000 genomes]
rs2556606	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556607	0.86[ASN][1000 genomes]
rs2556608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556611	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556612	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2556614	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556615	0.86[ASN][1000 genomes]
rs2619661	0.82[ASN][1000 genomes]
rs28850656	0.86[ASN][1000 genomes]
rs2888032	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4016442	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899779	0.86[ASN][1000 genomes]
rs4903943	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903944	0.86[ASN][1000 genomes]
rs4903945	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903946	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903947	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903949	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58699962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574606	0.86[ASN][1000 genomes]
rs6574608	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574609	0.82[ASN][1000 genomes]
rs6574610	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140452	0.83[ASN][1000 genomes]
rs7147306	0.83[ASN][1000 genomes]
rs7156306	0.86[ASN][1000 genomes]
rs7157845	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158936	0.82[ASN][1000 genomes]
rs722906	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72693013	0.82[ASN][1000 genomes]
rs7493314	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs759918	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs768359	0.84[ASN][1000 genomes]
rs8010491	0.83[ASN][1000 genomes]
rs8016507	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8017949	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:81316600-81338800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
4	chr14:81326600-81339800	Weak transcription	Fetal Thymus	thymus
5	chr14:81329200-81359400	Weak transcription	HSMM	muscle
6	chr14:81330400-81350600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:81331200-81344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:81332600-81344400	Weak transcription	Ovary	ovary
9	chr14:81332600-81345800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:81332800-81344000	Weak transcription	Thymus	Thymus
11	chr14:81333000-81344600	Weak transcription	Aorta	Aorta
12	chr14:81334800-81344400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:81335000-81344200	Weak transcription	A549	lung
14	chr14:81336000-81344400	Weak transcription	NHEK	skin
15	chr14:81336200-81342200	Strong transcription	Dnd41	blood
16	chr14:81336600-81358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:81337200-81338800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:81337200-81344200	Weak transcription	Primary B cells from cord blood	blood
19	chr14:81337200-81357400	Weak transcription	Primary T cells from cord blood	blood
20	chr14:81337800-81338800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:81337800-81348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:81338000-81340200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:81338000-81344800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:81338000-81346200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:81338200-81348000	Weak transcription	Liver	Liver
26	chr14:81338400-81350600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:81338600-81340000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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