Variant report

Variant	rs1197473
Chromosome Location	chr14:81278783-81278784
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81276542..81279336-chr14:81283354..81285060,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10133034	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10135084	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1016699	0.84[EUR][1000 genomes]
rs11627934	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1197467	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1197474	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12050416	0.86[EUR][1000 genomes]
rs12433134	0.85[EUR][1000 genomes]
rs12434318	0.82[EUR][1000 genomes]
rs149626	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs150997	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162171	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162174	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs170595	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1797671	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs228109	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228119	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228124	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2371421	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2371456	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2556604	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2556607	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2556615	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2619661	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28850656	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs327423	0.81[EUR][1000 genomes]
rs327424	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs327426	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs327428	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs327429	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs327431	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327434	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327451	0.96[ASN][1000 genomes]
rs327452	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs327454	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs328206	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328212	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs328213	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4899779	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4899780	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4903944	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58625998	0.87[ASN][1000 genomes]
rs6574606	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6574609	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7140452	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7147306	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7156306	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7156572	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7158936	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72693011	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72693013	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs759919	0.85[EUR][1000 genomes]
rs768359	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8008366	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8009508	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8010491	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8017038	0.86[EUR][1000 genomes]
rs9323694	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9671671	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81251800-81282600	Weak transcription	A549	lung
3	chr14:81265600-81284400	Weak transcription	Fetal Thymus	thymus
4	chr14:81267400-81284200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:81267400-81284800	Weak transcription	HSMM	muscle
6	chr14:81269600-81284400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:81272200-81284600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:81273400-81284400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:81275000-81282600	Weak transcription	Aorta	Aorta
10	chr14:81275200-81282800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:81275200-81283400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:81275200-81284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:81275200-81284400	Weak transcription	Thymus	Thymus
14	chr14:81277600-81281000	Weak transcription	Dnd41	blood
15	chr14:81277600-81284600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:81278400-81279200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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