Variant report

Variant	rs2645394
Chromosome Location	chr8:60969652-60969653
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:60962674..60964910-chr8:60968164..60970440,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1720155	0.84[EUR][1000 genomes]
rs2611364	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2688651	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2688654	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs577313	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 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	chr8:60968000-60971600	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:60968200-60971400	Enhancers	Primary B cells from cord blood	blood
3	chr8:60968400-60970000	Flanking Active TSS	GM12878-XiMat	blood
4	chr8:60968400-60972000	Enhancers	Brain Germinal Matrix	brain
5	chr8:60968400-60975000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:60968800-60974200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:60969000-60969800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:60969000-60970200	Enhancers	Brain Anterior Caudate	brain
9	chr8:60969000-60971000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:60969000-60971800	Enhancers	Brain Substantia Nigra	brain
11	chr8:60969000-60972400	Enhancers	Brain Cingulate Gyrus	brain
12	chr8:60969000-60972400	Enhancers	Brain Hippocampus Middle	brain
13	chr8:60969200-60970000	Enhancers	Colon Smooth Muscle	Colon
14	chr8:60969200-60970000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr8:60969200-60970000	Enhancers	Stomach Smooth Muscle	stomach
16	chr8:60969200-60974200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:60969400-60969800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:60969400-60970000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:60969400-60970400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:60969400-60970800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:60969600-60970000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:60969600-60970600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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