Variant report

Variant	rs73062267
Chromosome Location	chr1:192757372-192757373
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	chr1:192755133..192758594-chr1:192776077..192780199,3	K562	blood:

Variant related genes	Relation type
ENSG00000116741	Chromatin interaction

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

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

rs_ID	r²[population]
rs10489515	1.00[EUR][1000 genomes]
rs10489517	1.00[EUR][1000 genomes]
rs10921269	1.00[EUR][1000 genomes]
rs12091442	1.00[EUR][1000 genomes]
rs12093765	1.00[EUR][1000 genomes]
rs12096309	1.00[EUR][1000 genomes]
rs1342808	1.00[EUR][1000 genomes]
rs1418719	1.00[EUR][1000 genomes]
rs16834594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16834597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16834625	1.00[EUR][1000 genomes]
rs16834852	1.00[EUR][1000 genomes]
rs16834867	1.00[EUR][1000 genomes]
rs16834872	1.00[EUR][1000 genomes]
rs16834876	1.00[EUR][1000 genomes]
rs41512544	1.00[EUR][1000 genomes]
rs55747130	1.00[EUR][1000 genomes]
rs56006394	1.00[AMR][1000 genomes]
rs56031935	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57149196	1.00[EUR][1000 genomes]
rs57189481	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57630083	1.00[EUR][1000 genomes]
rs57826402	1.00[EUR][1000 genomes]
rs57890252	1.00[EUR][1000 genomes]
rs57963116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60892638	1.00[EUR][1000 genomes]
rs61030187	1.00[AMR][1000 genomes]
rs6680350	1.00[EUR][1000 genomes]
rs6683145	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689962	1.00[EUR][1000 genomes]
rs6702235	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6702236	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73052222	1.00[EUR][1000 genomes]
rs73052226	1.00[EUR][1000 genomes]
rs73060168	1.00[EUR][1000 genomes]
rs73060190	1.00[EUR][1000 genomes]
rs73062239	1.00[EUR][1000 genomes]
rs73062264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062271	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062273	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062285	1.00[EUR][1000 genomes]
rs73062286	1.00[EUR][1000 genomes]
rs73062290	1.00[EUR][1000 genomes]
rs73064112	1.00[EUR][1000 genomes]
rs73064182	1.00[EUR][1000 genomes]
rs73064200	1.00[EUR][1000 genomes]
rs73066132	1.00[EUR][1000 genomes]
rs73068111	1.00[EUR][1000 genomes]
rs73068113	1.00[EUR][1000 genomes]
rs73068116	1.00[EUR][1000 genomes]
rs74130451	1.00[EUR][1000 genomes]
rs74130466	1.00[EUR][1000 genomes]
rs74130477	0.86[AFR][1000 genomes]
rs7538953	1.00[EUR][1000 genomes]
rs7552270	1.00[EUR][1000 genomes]
rs7555263	1.00[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	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192754400-192757400	Weak transcription	HSMMtube	muscle
2	chr1:192757000-192757600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:192757000-192757800	Enhancers	A549	lung
4	chr1:192757000-192758200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:192757200-192757400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:192757200-192757400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:192757200-192757400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:192757200-192757400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr1:192757200-192757400	Enhancers	NHDF-Ad	bronchial
10	chr1:192757200-192757400	Enhancers	Osteobl	bone
11	chr1:192757200-192757600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:192757200-192757600	Active TSS	NH-A	brain
13	chr1:192757200-192757800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:192757200-192757800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:192757200-192757800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:192757200-192757800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:192757200-192757800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:192757200-192757800	Active TSS	Brain Hippocampus Middle	brain
19	chr1:192757200-192757800	Enhancers	HSMM	muscle

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