Variant report

Variant	rs60263195
Chromosome Location	chr5:119798579-119798580
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	chr5:119795709..119798645-chr5:119801095..119805087,3	K562	blood:

Variant related genes	Relation type
ENSG00000184838	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1503926	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17146596	0.93[EUR][1000 genomes]
rs17146610	0.93[EUR][1000 genomes]
rs17146612	0.93[EUR][1000 genomes]
rs17146625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1835869	0.93[EUR][1000 genomes]
rs60019001	0.93[EUR][1000 genomes]
rs61113370	0.81[AFR][1000 genomes]
rs6595230	0.93[EUR][1000 genomes]
rs6595231	0.93[EUR][1000 genomes]
rs6887795	0.93[EUR][1000 genomes]
rs6891906	0.93[EUR][1000 genomes]
rs73783446	0.84[AFR][1000 genomes]
rs73783447	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73784933	0.93[EUR][1000 genomes]
rs73784937	0.87[EUR][1000 genomes]
rs73784938	0.93[EUR][1000 genomes]
rs73785926	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73785931	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73785936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73785937	0.93[EUR][1000 genomes]
rs73785938	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7712011	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr5:119787400-119799600	Weak transcription	Psoas Muscle	Psoas
2	chr5:119790400-119799600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:119792800-119798800	Weak transcription	Fetal Lung	lung
4	chr5:119794000-119798800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:119794000-119798800	Weak transcription	Fetal Heart	heart
6	chr5:119794000-119799600	Weak transcription	Esophagus	oesophagus
7	chr5:119794200-119798600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:119794200-119798600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:119794200-119798600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:119794200-119798600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:119794200-119798600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:119794200-119798600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:119794200-119798600	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:119794200-119798600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:119794200-119798800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:119794200-119798800	Weak transcription	K562	blood
17	chr5:119794200-119799600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:119794200-119799600	Weak transcription	GM12878-XiMat	blood
19	chr5:119797800-119799600	Weak transcription	Placenta	Placenta
20	chr5:119798200-119798800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:119798200-119799400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:119798400-119799600	Enhancers	Cortex derived primary cultured neurospheres	brain

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