Variant report

Variant	rs13389648
Chromosome Location	chr2:96738732-96738733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167824	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10168350	1.00[EUR][1000 genomes]
rs10172762	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10176455	1.00[EUR][1000 genomes]
rs10176771	1.00[EUR][1000 genomes]
rs10187420	1.00[EUR][1000 genomes]
rs10195177	1.00[EUR][1000 genomes]
rs10198238	1.00[EUR][1000 genomes]
rs10205464	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13390615	1.00[EUR][1000 genomes]
rs13402791	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410926	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55845625	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56206858	1.00[EUR][1000 genomes]
rs56225135	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60864960	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7565104	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv870250	chr2:96610946-96739308	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv874672	chr2:96637870-96809331	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv874673	chr2:96647856-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv874674	chr2:96651163-96741944	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1825266	chr2:96704118-96830753	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv1004129	chr2:96738585-96825363	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96734200-96749400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:96734400-96758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:96735800-96738800	Enhancers	Brain Hippocampus Middle	brain
4	chr2:96735800-96739000	Enhancers	Brain Anterior Caudate	brain
5	chr2:96735800-96739200	Enhancers	HSMMtube	muscle
6	chr2:96735800-96740200	Enhancers	Fetal Muscle Trunk	muscle
7	chr2:96735800-96740400	Enhancers	Fetal Muscle Leg	muscle
8	chr2:96736600-96739000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:96737800-96739400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:96737800-96740400	Enhancers	Placenta	Placenta
11	chr2:96738000-96739400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:96738000-96740000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:96738200-96738800	Enhancers	Brain Angular Gyrus	brain
14	chr2:96738200-96738800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr2:96738400-96739600	Enhancers	Brain Germinal Matrix	brain
16	chr2:96738600-96738800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr2:96738600-96739400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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