Variant report

Variant	rs2994925
Chromosome Location	chr1:85097956-85097957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10874447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1340522	1.00[EUR][1000 genomes]
rs1515142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2911584	1.00[AMR][1000 genomes]
rs2911608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2943665	1.00[AMR][1000 genomes]
rs2994924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs312398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7413066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7529017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7546355	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85086800-85098400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:85086800-85100000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:85087000-85147400	Weak transcription	Gastric	stomach
4	chr1:85096400-85101600	Enhancers	Fetal Intestine Large	intestine
5	chr1:85096400-85101600	Enhancers	Fetal Intestine Small	intestine
6	chr1:85097200-85101200	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:85097800-85098200	Enhancers	Esophagus	oesophagus
8	chr1:85097800-85098400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:85097800-85099200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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Input of quick search could be:

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

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