Variant report

Variant	rs10494575
Chromosome Location	chr1:184158385-184158386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10911523	0.87[ASN][1000 genomes]
rs12129040	0.87[ASN][1000 genomes]
rs12132232	0.83[EUR][1000 genomes]
rs12136090	0.87[ASN][1000 genomes]
rs12406379	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301155	0.87[ASN][1000 genomes]
rs6697294	0.87[ASN][1000 genomes]
rs7518664	0.87[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv818622	chr1:184144995-184158796	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184157000-184162000	Weak transcription	Right Ventricle	heart
2	chr1:184157000-184162200	Weak transcription	Left Ventricle	heart
3	chr1:184157800-184160000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:184157800-184160000	Weak transcription	NHLF	lung
5	chr1:184157800-184162400	Enhancers	Fetal Heart	heart
6	chr1:184158200-184158600	Enhancers	Brain Germinal Matrix	brain
7	chr1:184158200-184159400	Enhancers	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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