Variant report

Variant	rs13405060
Chromosome Location	chr2:67744393-67744394
allele	A/C
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:12)

rs_ID	r²[population]
rs10167899	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10170643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11884974	0.86[AFR][1000 genomes]
rs12988145	0.82[AFR][1000 genomes]
rs13418049	0.97[AFR][1000 genomes]
rs13418759	0.82[AFR][1000 genomes]
rs1521044	0.83[AFR][1000 genomes]
rs4563209	0.83[AFR][1000 genomes]
rs6748393	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7573302	0.85[AFR][1000 genomes]
rs7573319	0.82[AFR][1000 genomes]
rs9973780	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67741400-67745200	Enhancers	NHDF-Ad	bronchial
2	chr2:67741400-67745200	Enhancers	NHLF	lung
3	chr2:67742000-67747000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:67742800-67744600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:67742800-67745400	Enhancers	Fetal Lung	lung
6	chr2:67743600-67745200	Enhancers	Fetal Stomach	stomach
7	chr2:67743800-67744600	Enhancers	Fetal Muscle Leg	muscle
8	chr2:67743800-67745000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:67743800-67745000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:67743800-67745200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:67743800-67745200	Enhancers	Osteobl	bone
12	chr2:67744000-67744400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:67744200-67745000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:67744200-67745000	Enhancers	Fetal Kidney	kidney

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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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