Variant report

Variant	rs16899450
Chromosome Location	chr8:125249717-125249718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125243793..125245984-chr8:125248788..125251371,2	K562	blood:
2	chr8:125245132..125247965-chr8:125248444..125250109,2	MCF-7	breast:
3	chr8:125238734..125241319-chr8:125247897..125250399,2	MCF-7	breast:
4	chr8:125248477..125251319-chr8:125300046..125301860,2	K562	blood:
5	chr8:125245505..125247774-chr8:125248974..125251123,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10106094	1.00[EUR][1000 genomes]
rs10109751	1.00[EUR][1000 genomes]
rs28459835	1.00[EUR][1000 genomes]
rs28504426	1.00[EUR][1000 genomes]
rs28613347	1.00[EUR][1000 genomes]
rs28618989	1.00[EUR][1000 genomes]
rs4077330	1.00[MEX][hapmap]
rs4262309	1.00[MEX][hapmap]
rs57363865	1.00[EUR][1000 genomes]
rs73329564	1.00[EUR][1000 genomes]
rs73329572	1.00[EUR][1000 genomes]
rs73329581	1.00[EUR][1000 genomes]
rs73332169	1.00[EUR][1000 genomes]
rs73332171	1.00[EUR][1000 genomes]
rs73332188	1.00[EUR][1000 genomes]
rs73332193	1.00[EUR][1000 genomes]
rs73333906	1.00[EUR][1000 genomes]
rs73333919	1.00[EUR][1000 genomes]
rs73333922	1.00[EUR][1000 genomes]
rs73337905	1.00[EUR][1000 genomes]
rs73343183	1.00[EUR][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	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125248000-125250400	Enhancers	Fetal Heart	heart
2	chr8:125248400-125251000	Enhancers	HUVEC	blood vessel
3	chr8:125249000-125249800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:125249000-125250000	Enhancers	NHEK	skin
5	chr8:125249000-125250600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:125249200-125249800	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:125249200-125250000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr8:125249200-125250000	Enhancers	HSMMtube	muscle
9	chr8:125249200-125250200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:125249200-125250200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:125249200-125250400	Enhancers	Psoas Muscle	Psoas
12	chr8:125249200-125250400	Enhancers	Osteobl	bone
13	chr8:125249200-125250600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:125249200-125250600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:125249200-125250600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:125249200-125250600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:125249200-125250600	Enhancers	NH-A	brain
18	chr8:125249200-125250800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:125249200-125251000	Enhancers	NHDF-Ad	bronchial
20	chr8:125249400-125249800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:125249400-125249800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:125249400-125250000	Enhancers	HSMM	muscle
23	chr8:125249400-125250800	Enhancers	A549	lung
24	chr8:125249400-125259400	Weak transcription	Right Ventricle	heart
25	chr8:125249600-125250600	Enhancers	Left Ventricle	heart

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