Variant report

Variant	rs1406444
Chromosome Location	chr2:148473247-148473248
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1112809	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424941	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs1881571	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919447	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969547	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2049740	0.97[EUR][1000 genomes]
rs3754541	0.81[JPT][hapmap]
rs4290595	0.89[EUR][1000 genomes]
rs62169464	0.94[EUR][1000 genomes]
rs62169465	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6430240	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6733995	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747792	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs721344	0.81[JPT][hapmap]
rs7560502	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs7581569	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7607970	0.97[EUR][1000 genomes];0.86[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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148469000-148473400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:148470800-148475400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:148471400-148474600	Enhancers	HSMMtube	muscle
4	chr2:148471600-148474000	Enhancers	HSMM	muscle
5	chr2:148471800-148476600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:148472200-148474800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:148472600-148474800	Enhancers	GM12878-XiMat	blood
8	chr2:148473000-148473600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

Quick Search:

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

what's new

Quick links