Variant report

Variant	rs16899395
Chromosome Location	chr8:125216709-125216710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125214674..125216919-chr8:125220846..125223864,3	MCF-7	breast:
2	chr8:125216614..125219503-chr8:125283781..125285418,2	MCF-7	breast:
3	chr8:125211776..125214598-chr8:125216310..125218448,4	MCF-7	breast:
4	chr8:125211433..125214005-chr8:125215089..125216813,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11985624	1.00[EUR][1000 genomes]
rs11986399	1.00[EUR][1000 genomes]
rs11988179	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993616	1.00[EUR][1000 genomes]
rs16899392	1.00[EUR][1000 genomes]
rs16899398	1.00[EUR][1000 genomes]
rs16899412	1.00[EUR][1000 genomes]
rs16899415	1.00[EUR][1000 genomes]
rs55665685	1.00[EUR][1000 genomes]
rs55983716	1.00[EUR][1000 genomes]
rs56187466	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56245137	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56293000	1.00[EUR][1000 genomes]
rs56348823	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59692764	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60849706	1.00[EUR][1000 genomes]
rs61668924	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6470232	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6470234	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6980940	1.00[EUR][1000 genomes]
rs6991501	1.00[EUR][1000 genomes]
rs6999329	1.00[EUR][1000 genomes]
rs7003668	1.00[EUR][1000 genomes]
rs7003913	1.00[EUR][1000 genomes]
rs73328371	1.00[EUR][1000 genomes]
rs73703979	1.00[EUR][1000 genomes]
rs73703980	1.00[EUR][1000 genomes]
rs73703982	1.00[EUR][1000 genomes]
rs73703990	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73703992	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703993	1.00[EUR][1000 genomes]
rs73703995	1.00[EUR][1000 genomes]
rs73703996	1.00[EUR][1000 genomes]
rs73703997	1.00[EUR][1000 genomes]
rs73703999	1.00[EUR][1000 genomes]
rs73704000	1.00[EUR][1000 genomes]
rs73704001	1.00[EUR][1000 genomes]
rs7816741	1.00[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	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	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125213400-125216800	Enhancers	A549	lung
2	chr8:125213400-125219400	Weak transcription	HSMMtube	muscle
3	chr8:125213400-125219800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:125213400-125220000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:125213800-125218200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:125213800-125220200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:125214800-125219600	Weak transcription	Adipose Nuclei	Adipose
8	chr8:125214800-125220000	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:125214800-125220400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:125214800-125221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:125215000-125220000	Weak transcription	Psoas Muscle	Psoas
12	chr8:125215400-125219400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:125215400-125221800	Weak transcription	Fetal Heart	heart
14	chr8:125216000-125216800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:125216000-125216800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:125216200-125216800	Enhancers	HUVEC	blood vessel
17	chr8:125216400-125216800	Enhancers	Right Ventricle	heart
18	chr8:125216400-125216800	Enhancers	NHDF-Ad	bronchial
19	chr8:125216400-125240200	Weak transcription	Left Ventricle	heart
20	chr8:125216600-125216800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:125216600-125216800	Enhancers	Spleen	Spleen

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