Variant report

Variant	rs2124470
Chromosome Location	chr8:121306354-121306355
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	chr8:121301033..121303364-chr8:121304258..121306579,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10092516	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100841	0.87[ASN][1000 genomes]
rs10103136	0.85[ASN][1000 genomes]
rs1073523	0.89[ASN][1000 genomes]
rs10955967	0.87[ASN][1000 genomes]
rs10955968	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11775222	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781559	0.82[ASN][1000 genomes]
rs11781561	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11783320	0.82[ASN][1000 genomes]
rs11785760	0.89[ASN][1000 genomes]
rs12676121	0.89[ASN][1000 genomes]
rs12678188	0.87[ASN][1000 genomes]
rs12678374	0.87[ASN][1000 genomes]
rs1319578	0.89[ASN][1000 genomes]
rs1531131	0.87[ASN][1000 genomes]
rs1563388	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563389	0.89[ASN][1000 genomes]
rs1869831	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869832	0.89[ASN][1000 genomes]
rs1993390	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993391	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100540	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2198748	0.87[ASN][1000 genomes]
rs2219240	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2219241	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219242	0.87[ASN][1000 genomes]
rs2290520	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305609	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28529014	0.86[ASN][1000 genomes]
rs4279641	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4871054	0.85[ASN][1000 genomes]
rs4871055	0.93[ASN][1000 genomes]
rs4871056	0.87[ASN][1000 genomes]
rs4871057	0.87[ASN][1000 genomes]
rs57514813	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57553886	0.89[ASN][1000 genomes]
rs6469905	0.87[ASN][1000 genomes]
rs6469907	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6469909	0.85[ASN][1000 genomes]
rs6469910	0.87[ASN][1000 genomes]
rs6469911	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469912	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6469913	0.87[ASN][1000 genomes]
rs6469914	0.87[ASN][1000 genomes]
rs6469915	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983911	0.87[ASN][1000 genomes]
rs6985324	0.87[ASN][1000 genomes]
rs6994888	0.87[ASN][1000 genomes]
rs7003797	0.87[ASN][1000 genomes]
rs7004015	0.87[ASN][1000 genomes]
rs7004099	0.87[ASN][1000 genomes]
rs7006048	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006555	0.87[ASN][1000 genomes]
rs7010688	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017945	0.87[ASN][1000 genomes]
rs7341620	0.87[ASN][1000 genomes]
rs7341686	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814222	0.83[ASN][1000 genomes]
rs7817097	0.89[ASN][1000 genomes]
rs7817682	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7818861	0.88[ASN][1000 genomes]
rs7821139	0.85[ASN][1000 genomes]
rs7827901	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7829213	0.87[ASN][1000 genomes]
rs7830625	0.87[ASN][1000 genomes]
rs7834446	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835757	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839121	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841201	0.87[ASN][1000 genomes]
rs7844334	0.87[ASN][1000 genomes]
rs7844938	0.87[ASN][1000 genomes]
rs7845246	0.87[ASN][1000 genomes]
rs959370	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv612112	chr8:121234298-121385167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121284800-121347800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:121287400-121322600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:121293400-121333200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:121293600-121312000	Weak transcription	Placenta	Placenta
5	chr8:121294200-121311200	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:121295400-121313000	Weak transcription	Fetal Stomach	stomach
7	chr8:121295400-121313600	Weak transcription	Ovary	ovary
8	chr8:121299200-121311000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:121299400-121313200	Weak transcription	Aorta	Aorta
10	chr8:121299400-121324400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:121301000-121306400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:121303800-121307800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:121305000-121306600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:121305200-121307800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:121305400-121309800	Weak transcription	Fetal Lung	lung
16	chr8:121306000-121307400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:121306200-121306600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:121306200-121307200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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