Variant report

Variant	rs4871548
Chromosome Location	chr8:125811717-125811718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125807877..125814693-chr8:125825913..125830602,6	K562	blood:
2	chr8:125810899..125814693-chr8:125825780..125828735,5	K562	blood:
3	chr8:125687986..125690469-chr8:125810127..125812485,2	K562	blood:
4	chr8:125810983..125812686-chr8:125813868..125815864,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10096762	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10096773	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10109504	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10111362	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10441517	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956210	0.97[ASN][1000 genomes]
rs10956211	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956212	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956213	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13267313	0.92[AFR][1000 genomes]
rs34102348	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34642461	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34924479	0.89[AFR][1000 genomes]
rs35401131	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35468637	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35806510	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36117845	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871545	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60194127	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530567	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530568	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470281	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470283	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470285	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66919556	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987769	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6998379	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000790	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7465312	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7465366	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7821674	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822172	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822246	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822339	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7823921	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824418	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840165	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840339	0.99[ASN][1000 genomes]
rs7840519	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840542	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297697	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297698	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9643204	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125803400-125815000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125808200-125812400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:125808600-125812400	Enhancers	Brain Germinal Matrix	brain
4	chr8:125808800-125812200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr8:125809200-125812200	Enhancers	Brain Cingulate Gyrus	brain
6	chr8:125809400-125813600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:125809600-125814800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:125810200-125812200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:125810200-125812200	Enhancers	Brain Hippocampus Middle	brain
10	chr8:125810400-125812000	Enhancers	Brain Angular Gyrus	brain
11	chr8:125810400-125812200	Enhancers	Brain Substantia Nigra	brain
12	chr8:125810400-125812400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:125810600-125812000	Enhancers	Brain Anterior Caudate	brain
14	chr8:125810600-125812000	Enhancers	Fetal Heart	heart
15	chr8:125810800-125811800	Weak transcription	Spleen	Spleen
16	chr8:125810800-125812000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:125810800-125812000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:125810800-125812000	Enhancers	Right Ventricle	heart
19	chr8:125811000-125811800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:125811000-125815000	Weak transcription	HSMMtube	muscle
21	chr8:125811200-125811800	Enhancers	Fetal Lung	lung
22	chr8:125811400-125812200	Enhancers	HepG2	liver
23	chr8:125811400-125812600	Weak transcription	Left Ventricle	heart
24	chr8:125811400-125820600	Weak transcription	Lung	lung

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