Variant report

Variant	rs61422480
Chromosome Location	chr8:124188940-124188941
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124183395..124185998-chr8:124186648..124190984,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10096350	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10505430	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11988157	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11992152	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13259806	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13260626	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13260775	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13260798	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13261021	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13261066	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13261100	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16898076	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16898084	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16898086	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16898088	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16898095	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16898097	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17323510	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28513831	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28528232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28537152	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28542077	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28624331	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28670850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28694222	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4282551	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4377946	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57165742	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57322232	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57902736	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58116120	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58177772	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58189203	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58741168	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59601467	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59834873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60362869	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60827294	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61326230	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62521825	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62521826	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521841	0.87[EUR][1000 genomes]
rs6983795	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6988636	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6989108	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7002021	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7002332	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73339658	0.84[EUR][1000 genomes]
rs73339686	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9987352	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9987357	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124178800-124194000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:124186800-124189600	Weak transcription	Esophagus	oesophagus
3	chr8:124186800-124194000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:124186800-124194400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:124187000-124193600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:124187200-124190000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:124187400-124189800	Weak transcription	HMEC	breast
8	chr8:124187400-124190000	Weak transcription	NHEK	skin
9	chr8:124188000-124189000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:124188000-124189600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:124188400-124190400	Weak transcription	Hela-S3	cervix
12	chr8:124188600-124189600	Weak transcription	K562	blood

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