Variant report

Variant	rs60890009
Chromosome Location	chr4:86488349-86488350
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:77168652..77171487-chr4:86487971..86489491,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12510337	1.00[EUR][1000 genomes]
rs1383974	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1545822	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010470	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010502	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010510	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2200049	1.00[AMR][1000 genomes]
rs59605111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60617061	1.00[AMR][1000 genomes]
rs6851965	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73835213	1.00[AMR][1000 genomes]
rs73835215	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86476800-86491800	Weak transcription	NHDF-Ad	bronchial
2	chr4:86477000-86493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:86477600-86494600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:86478000-86501000	Weak transcription	Right Ventricle	heart
5	chr4:86479000-86493800	Weak transcription	Spleen	Spleen
6	chr4:86479400-86488600	Weak transcription	Psoas Muscle	Psoas
7	chr4:86482200-86491600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:86484800-86489800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr4:86484800-86491600	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:86485200-86491600	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:86486000-86509200	Weak transcription	Left Ventricle	heart
12	chr4:86486400-86488600	Enhancers	HSMM	muscle
13	chr4:86487000-86509200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:86487200-86491800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:86487200-86521200	Weak transcription	HSMMtube	muscle
16	chr4:86487600-86488600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:86487600-86491200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:86488000-86489000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:86488000-86492400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:86488200-86488800	Enhancers	Primary B cells from cord blood	blood
21	chr4:86488200-86490400	Weak transcription	GM12878-XiMat	blood
22	chr4:86488200-86491800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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