Variant report

Variant	rs7553594
Chromosome Location	chr1:192945347-192945348
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	chr1:192944889..192949055-chr1:192952758..192955789,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1339589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339592	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1578163	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1612628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1618583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16835090	0.83[AMR][1000 genomes]
rs1769055	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769056	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769057	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769058	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769059	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769061	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1770923	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2093603	0.83[AMR][1000 genomes]
rs2093604	0.83[AMR][1000 genomes]
rs2486494	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486495	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486498	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2487283	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2487289	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55986802	0.83[AMR][1000 genomes]
rs56085838	0.83[AMR][1000 genomes]
rs57466067	0.83[AMR][1000 genomes]
rs58854175	0.83[AMR][1000 genomes]
rs59189492	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6669547	0.83[AMR][1000 genomes]
rs6697396	0.83[AMR][1000 genomes]
rs73068182	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73068192	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74130905	0.83[AMR][1000 genomes]
rs74130906	0.83[AMR][1000 genomes]
rs74130907	0.83[AMR][1000 genomes]
rs74130908	0.83[AMR][1000 genomes]
rs74133123	0.83[AMR][1000 genomes]
rs7546076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842784	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842787	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842788	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842789	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842799	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842800	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842801	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842806	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842807	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842808	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842809	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842810	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842811	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842813	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs863600	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs866380	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs866381	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9427563	0.83[AMR][1000 genomes]
rs9427564	0.83[AMR][1000 genomes]
rs9427568	0.83[AMR][1000 genomes]
rs9427569	0.83[AMR][1000 genomes]
rs9427570	0.83[AMR][1000 genomes]
rs9427827	0.83[AMR][1000 genomes]
rs9427828	0.83[AMR][1000 genomes]
rs9427829	0.83[AMR][1000 genomes]
rs9427830	0.83[AMR][1000 genomes]
rs9427831	0.83[AMR][1000 genomes]
rs9427832	0.83[AMR][1000 genomes]
rs9427833	0.83[AMR][1000 genomes]
rs946556	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv2762039	chr1:192944821-192949840	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192937000-192963400	Weak transcription	Aorta	Aorta
2	chr1:192937800-192946600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
4	chr1:192939200-192946400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:192940600-192947600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:192944000-192948600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:192944000-192949800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:192944000-192951400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:192944000-192961800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:192944000-192962800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:192944000-192963000	Weak transcription	Pancreas	Pancrea
12	chr1:192944200-192963200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:192944400-192949600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:192944400-192962800	Weak transcription	Osteobl	bone
15	chr1:192944800-192946200	Enhancers	K562	blood

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