Variant report

Variant	rs72980454
Chromosome Location	chr1:97471286-97471287
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57734666	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965835	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97459000-97471800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:97464800-97471800	Weak transcription	Aorta	Aorta
3	chr1:97466600-97471600	Weak transcription	Fetal Heart	heart
4	chr1:97471000-97471800	Enhancers	Osteobl	bone
5	chr1:97471000-97472600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:97471200-97471800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:97471200-97472200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:97471200-97472200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:97471200-97472200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:97471200-97472200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:97471200-97472200	Enhancers	Fetal Brain Male	brain
12	chr1:97471200-97472400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:97471200-97472600	Enhancers	HSMM	muscle
14	chr1:97471200-97472600	Enhancers	NH-A	brain
15	chr1:97471200-97472800	Enhancers	HSMMtube	muscle
16	chr1:97471200-97473400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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