Variant report

Variant	rs61979452
Chromosome Location	chr14:81276998-81276999
allele	A/G
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]
rs1016507	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1025253	0.81[EUR][1000 genomes]
rs11623023	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12431821	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12432357	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12434564	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12880014	0.86[AMR][1000 genomes]
rs12886388	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12888082	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12891585	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12896065	0.86[AMR][1000 genomes]
rs1458993	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs172920	0.89[EUR][1000 genomes]
rs17542615	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17613911	0.83[AMR][1000 genomes]
rs17614081	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1797670	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1992973	0.84[AMR][1000 genomes]
rs2044737	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2044738	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2217174	0.84[EUR][1000 genomes]
rs2217176	0.83[EUR][1000 genomes]
rs228110	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs228111	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs228118	0.89[EUR][1000 genomes]
rs228120	0.89[EUR][1000 genomes]
rs228121	0.89[EUR][1000 genomes]
rs228125	0.89[EUR][1000 genomes]
rs2371416	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2371457	0.81[EUR][1000 genomes]
rs2556601	0.89[EUR][1000 genomes]
rs2556605	0.86[EUR][1000 genomes]
rs2596118	0.84[AMR][1000 genomes]
rs35540104	0.91[EUR][1000 genomes]
rs4523859	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4903948	0.81[EUR][1000 genomes]
rs61979448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61979449	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61979451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6574613	0.81[EUR][1000 genomes]
rs66492142	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7141130	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71416852	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7143407	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7148368	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7148618	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7150858	0.84[ASN][1000 genomes]
rs7153979	0.83[EUR][1000 genomes]
rs7154132	0.83[EUR][1000 genomes]
rs7154373	0.83[EUR][1000 genomes]
rs728444	0.83[EUR][1000 genomes]
rs759916	0.85[EUR][1000 genomes]
rs759917	0.84[EUR][1000 genomes]
rs8003784	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8005883	0.81[EUR][1000 genomes]
rs8006507	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8006864	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8021137	0.85[EUR][1000 genomes]
rs8022411	0.81[EUR][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	chr14:81259400-81278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:81265600-81277200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:81265600-81284400	Weak transcription	Fetal Thymus	thymus
6	chr14:81267400-81284200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:81267400-81284800	Weak transcription	HSMM	muscle
8	chr14:81269600-81284400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:81272200-81284600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:81273400-81284400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:81275000-81277600	Enhancers	Dnd41	blood
12	chr14:81275000-81282600	Weak transcription	Aorta	Aorta
13	chr14:81275200-81282800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:81275200-81283400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:81275200-81284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:81275200-81284400	Weak transcription	Thymus	Thymus

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