Variant report

Variant	rs2510816
Chromosome Location	chr8:107485453-107485454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107282403..107283907-chr8:107484126..107486179,2	K562	blood:

Variant related genes	Relation type
ENSG00000254615	Chromatin interaction
ENSG00000164830	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1026294	0.85[AMR][1000 genomes]
rs1377403	0.85[AMR][1000 genomes]
rs1377404	0.85[AMR][1000 genomes]
rs1377406	0.85[AMR][1000 genomes]
rs1453222	0.85[AMR][1000 genomes]
rs1453223	0.85[AMR][1000 genomes]
rs1453225	0.85[AMR][1000 genomes]
rs1545517	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1551266	0.85[AMR][1000 genomes]
rs1551267	0.85[AMR][1000 genomes]
rs1551268	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1580059	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1619201	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1670394	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1670401	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17338307	0.91[EUR][1000 genomes]
rs1869307	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1869308	0.85[AMR][1000 genomes]
rs1901780	0.85[AMR][1000 genomes]
rs1901782	0.85[AMR][1000 genomes]
rs2123540	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2123541	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2167797	0.85[AMR][1000 genomes]
rs2345800	0.85[AMR][1000 genomes]
rs2345801	0.85[AMR][1000 genomes]
rs2444315	0.85[AMR][1000 genomes]
rs2444317	0.85[AMR][1000 genomes]
rs2444318	0.85[AMR][1000 genomes]
rs2444319	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2444321	0.85[AMR][1000 genomes]
rs2444322	0.85[AMR][1000 genomes]
rs2510810	0.88[EUR][1000 genomes]
rs2510812	0.86[EUR][1000 genomes]
rs2510814	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2510815	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2510821	0.85[AMR][1000 genomes]
rs2510822	0.85[AMR][1000 genomes]
rs2510823	0.85[AMR][1000 genomes]
rs2510824	0.85[AMR][1000 genomes]
rs2510825	0.85[AMR][1000 genomes]
rs2510828	0.85[AMR][1000 genomes]
rs2510829	0.85[AMR][1000 genomes]
rs2510833	0.94[EUR][1000 genomes]
rs3018081	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4734911	0.89[EUR][1000 genomes]
rs965157	0.85[AMR][1000 genomes]
rs965159	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs972598	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs984679	0.85[AMR][1000 genomes]
rs987645	0.85[AMR][1000 genomes]
rs987646	0.85[AMR][1000 genomes]
rs987647	0.85[AMR][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	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv824701	chr8:107378298-107520063	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv611844	chr8:107440038-107494918	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107466000-107487000	Weak transcription	Aorta	Aorta
2	chr8:107475400-107511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:107478200-107495000	Weak transcription	NHDF-Ad	bronchial
4	chr8:107481400-107494200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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