Variant report

Variant	rs4871545
Chromosome Location	chr8:125802949-125802950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125796403..125800528-chr8:125801363..125805897,4	K562	blood:
2	chr8:125798304..125800528-chr8:125800814..125804175,4	K562	blood:

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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096773	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109504	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10111362	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10441517	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956210	0.98[ASN][1000 genomes]
rs10956211	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956212	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956213	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34102348	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34642461	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35401131	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35468637	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35806510	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36117845	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3935197	0.81[AFR][1000 genomes]
rs4871548	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60194127	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62530567	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62530568	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470281	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470283	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470285	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66919556	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980646	0.82[AFR][1000 genomes]
rs6987769	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6998379	0.98[EUR][1000 genomes];0.99[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465366	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821674	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822172	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822246	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822339	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7823921	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824418	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840165	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840339	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840519	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840542	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297697	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9297698	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643204	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125800000-125803400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125800000-125803800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:125800200-125803400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:125800400-125803200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:125801000-125803400	Enhancers	HepG2	liver
6	chr8:125801200-125803000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:125801600-125803600	Enhancers	NHDF-Ad	bronchial
8	chr8:125801600-125803800	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:125801800-125803000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:125801800-125803200	Enhancers	K562	blood
11	chr8:125801800-125803400	Enhancers	Fetal Muscle Leg	muscle
12	chr8:125801800-125803600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:125801800-125803600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr8:125801800-125804000	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:125802000-125803200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:125802000-125803200	Enhancers	Fetal Lung	lung
17	chr8:125802000-125803200	Enhancers	Placenta	Placenta
18	chr8:125802000-125803600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:125802200-125803000	Enhancers	Primary T cells from cord blood	blood
20	chr8:125802200-125803200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:125802200-125803200	Enhancers	Brain Hippocampus Middle	brain
22	chr8:125802200-125803400	Enhancers	Osteobl	bone
23	chr8:125802200-125810800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:125802400-125803400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:125802600-125803000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:125802600-125803200	Enhancers	Brain Substantia Nigra	brain
27	chr8:125802600-125803600	Weak transcription	Ovary	ovary
28	chr8:125802600-125803800	Enhancers	Fetal Kidney	kidney
29	chr8:125802600-125809400	Weak transcription	Spleen	Spleen
30	chr8:125802800-125803600	Enhancers	Primary B cells from cord blood	blood
31	chr8:125802800-125803800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:125802800-125803800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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