Variant report

Variant	rs6049754
Chromosome Location	chr20:24504850-24504851
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28822488	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049726	1.00[CHD][hapmap]
rs6049728	1.00[CHD][hapmap]
rs6049746	0.97[EUR][1000 genomes]
rs6049747	0.85[LWK][hapmap]
rs6049752	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049772	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6049777	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6114748	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6114754	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73343312	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73343343	1.00[ASN][1000 genomes]
rs8123492	1.00[ASN][1000 genomes]
rs8123552	1.00[ASN][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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24491400-24508600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:24501600-24505600	Enhancers	Brain Substantia Nigra	brain
3	chr20:24503000-24505000	Enhancers	Brain Anterior Caudate	brain
4	chr20:24503000-24505000	Enhancers	Brain Hippocampus Middle	brain
5	chr20:24503000-24505600	Enhancers	Brain Angular Gyrus	brain
6	chr20:24503400-24511000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr20:24503800-24511200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:24504000-24525800	Weak transcription	Aorta	Aorta
9	chr20:24504200-24505000	Enhancers	Brain Germinal Matrix	brain
10	chr20:24504200-24505400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr20:24504200-24505600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:24504400-24505000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr20:24504600-24505000	Enhancers	Brain Cingulate Gyrus	brain
14	chr20:24504600-24505000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr20:24504800-24508400	Weak transcription	Fetal Brain Male	brain

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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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