Variant report

Variant	rs2444319
Chromosome Location	chr8:107506415-107506416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1026294	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1377403	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1377404	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1377406	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1453219	0.83[EUR][1000 genomes]
rs1453220	0.83[EUR][1000 genomes]
rs1453222	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1453223	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1453225	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1545517	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1551266	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1551267	0.85[AMR][1000 genomes]
rs1551268	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1580059	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1619201	0.98[EUR][1000 genomes]
rs1670392	0.81[EUR][1000 genomes]
rs1670394	0.98[EUR][1000 genomes]
rs1670395	0.83[EUR][1000 genomes]
rs1670401	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17338307	0.94[EUR][1000 genomes]
rs1869307	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1869308	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1901780	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1901782	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2123540	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2123541	0.88[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];0.81[EUR][1000 genomes]
rs2444315	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2444317	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2444318	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2444321	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2444322	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2510810	0.94[EUR][1000 genomes]
rs2510812	0.92[EUR][1000 genomes]
rs2510814	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2510815	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2510816	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2510821	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2510822	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2510823	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2510824	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2510825	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2510828	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2510829	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2510833	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3018081	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4734911	0.92[EUR][1000 genomes]
rs965157	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs965159	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs972598	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs984679	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs987645	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs987646	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs987647	0.85[AMR][1000 genomes];0.83[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	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107475400-107511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:107503600-107513400	Weak transcription	Spleen	Spleen
3	chr8:107504000-107513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:107504200-107507000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:107505800-107513400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:107506200-107511600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:107506400-107506800	Enhancers	GM12878-XiMat	blood

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