Variant report

Variant	rs13395010
Chromosome Location	chr2:127411213-127411214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10928978	0.90[ASN][1000 genomes]
rs10928979	0.93[ASN][1000 genomes]
rs12468467	1.00[ASN][1000 genomes]
rs13008888	0.95[ASN][1000 genomes]
rs1550407	0.91[ASN][1000 genomes]
rs1813402	0.99[ASN][1000 genomes]
rs1960696	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2099732	0.97[ASN][1000 genomes]
rs2099733	0.93[ASN][1000 genomes]
rs2119151	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119152	0.96[ASN][1000 genomes]
rs2165226	0.96[ASN][1000 genomes]
rs2404961	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28387094	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28387096	0.92[ASN][1000 genomes]
rs3811541	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.88[MKK][hapmap];0.99[ASN][1000 genomes]
rs6431169	0.85[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875000	chr2:127402833-127423066	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127406400-127412400	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:127408000-127413000	Weak transcription	Aorta	Aorta
3	chr2:127409400-127411800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:127409800-127411400	Enhancers	Fetal Lung	lung
5	chr2:127410400-127412600	Enhancers	K562	blood
6	chr2:127410800-127412600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:127410800-127412800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:127410800-127414200	Weak transcription	Hela-S3	cervix
9	chr2:127411000-127412400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:127411000-127412400	Weak transcription	Left Ventricle	heart
11	chr2:127411000-127412600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:127411000-127412800	Weak transcription	Ovary	ovary
13	chr2:127411200-127412400	Weak transcription	Fetal Heart	heart

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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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