Variant report

Variant	rs2486498
Chromosome Location	chr1:192929526-192929527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192924694..192927140-chr1:192929205..192931842,2	K562	blood:
2	chr1:192929487..192932088-chr1:193025767..193027297,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TROVE2-3	chr1:192926858-192930165	NONHSAT008549

Variant related genes	Relation type
ENSG00000238754	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1339589	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1339592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1578163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1612628	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1618583	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769057	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769059	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769068	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769070	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769071	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1770923	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486494	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2486495	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2487283	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2487289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59189492	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6661948	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73068182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73068192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7546076	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7553594	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842785	0.81[AFR][1000 genomes]
rs842786	0.81[AFR][1000 genomes]
rs842787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842788	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs863600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs866380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs866381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:192909000-192936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:192922400-192941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:192923400-192931600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:192929000-192930000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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