Variant report

Variant	rs2486494
Chromosome Location	chr1:192940662-192940663
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	chr1:192935154..192937463-chr1:192938580..192941268,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1339589	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339592	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1578163	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1612628	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1618583	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16835090	0.83[AMR][1000 genomes]
rs1769055	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769056	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769057	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769058	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769059	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769061	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769068	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769070	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769071	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1770923	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2093603	0.83[AMR][1000 genomes]
rs2093604	0.83[AMR][1000 genomes]
rs2486495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486498	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2487283	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2487289	0.95[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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661948	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6669547	0.83[AMR][1000 genomes]
rs6697396	0.83[AMR][1000 genomes]
rs73068182	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73068192	0.93[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842784	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842787	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842788	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842789	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842799	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842800	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842801	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842806	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842807	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842808	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842809	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842810	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842811	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842813	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs863600	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs866380	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs866381	0.95[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	0.95[AFR][1000 genomes];0.85[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192922400-192941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:192937000-192963400	Weak transcription	Aorta	Aorta
3	chr1:192937800-192946600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:192938000-192943000	Weak transcription	Fetal Intestine Large	intestine
5	chr1:192938000-192943600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:192938000-192943800	Weak transcription	Pancreas	Pancrea
7	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
8	chr1:192938200-192942800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:192938400-192942200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:192938400-192944800	Weak transcription	K562	blood
11	chr1:192938800-192943000	Weak transcription	Fetal Intestine Small	intestine
12	chr1:192938800-192943800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:192939000-192942400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:192939200-192940800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:192939200-192942200	Weak transcription	Osteobl	bone
16	chr1:192939200-192942600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:192939200-192946400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:192940400-192940800	Enhancers	HSMMtube	muscle
19	chr1:192940400-192942200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:192940600-192943200	Weak transcription	Small Intestine	intestine
21	chr1:192940600-192947600	Weak transcription	Duodenum Mucosa	Duodenum

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