Variant report

Variant	rs7003818
Chromosome Location	chr8:122140233-122140234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:122139349..122141045-chr8:122144166..122146636,2	K562	blood:
2	chr8:122124999..122126907-chr8:122139149..122141518,2	MCF-7	breast:
3	chr8:122099369..122101426-chr8:122138809..122140970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271219	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10505394	1.00[AMR][1000 genomes]
rs16892939	1.00[AMR][1000 genomes]
rs16894726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894789	1.00[AMR][1000 genomes]
rs16894829	1.00[AMR][1000 genomes]
rs16894838	1.00[AMR][1000 genomes]
rs16894879	1.00[AMR][1000 genomes]
rs16894881	1.00[AMR][1000 genomes]
rs16894882	1.00[AMR][1000 genomes]
rs16894884	1.00[AMR][1000 genomes]
rs16894892	1.00[AMR][1000 genomes]
rs16894895	1.00[AMR][1000 genomes]
rs57662055	1.00[AMR][1000 genomes]
rs58961797	1.00[AMR][1000 genomes]
rs59988600	1.00[AMR][1000 genomes]
rs7004176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73318971	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73318973	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73318976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322914	1.00[AMR][1000 genomes]
rs73322927	1.00[AMR][1000 genomes]
rs73322930	1.00[AMR][1000 genomes]
rs73324903	1.00[AMR][1000 genomes]
rs73324907	1.00[AMR][1000 genomes]
rs73324910	1.00[AMR][1000 genomes]
rs7828556	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122132600-122142800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:122133200-122142000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:122139200-122141800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:122139400-122140800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:122139400-122144000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:122140000-122141800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:122140000-122142000	Weak transcription	Fetal Lung	lung
8	chr8:122140200-122140400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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