Variant report

Variant	rs6542065
Chromosome Location	chr2:113371353-113371354
allele	A/G
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]
rs11680446	0.89[EUR][1000 genomes]
rs3088301	0.98[ASN][1000 genomes]
rs35743012	0.98[ASN][1000 genomes]
rs3849316	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3849317	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3980075	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4547533	0.81[ASN][1000 genomes]
rs4848284	0.90[ASN][1000 genomes]
rs4849078	0.93[ASN][1000 genomes]
rs4849079	0.97[ASN][1000 genomes]
rs4849083	0.90[ASN][1000 genomes]
rs6542066	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6542067	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6542068	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6740202	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6758898	0.90[ASN][1000 genomes]
rs7559385	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[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	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 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	chr2:113346800-113374600	Weak transcription	Ovary	ovary
2	chr2:113348600-113383600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:113349000-113384000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:113357000-113371800	Weak transcription	Gastric	stomach
5	chr2:113357800-113375200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:113357800-113384200	Weak transcription	Pancreas	Pancrea
7	chr2:113358000-113371800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:113358000-113384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:113359600-113371800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:113359800-113372000	Weak transcription	Fetal Brain Female	brain
11	chr2:113364600-113372800	Weak transcription	Fetal Stomach	stomach
12	chr2:113365600-113372000	Weak transcription	Brain Anterior Caudate	brain
13	chr2:113370000-113372200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:113370400-113383800	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:113370600-113371600	Weak transcription	HepG2	liver
16	chr2:113370600-113377800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:113371000-113372000	Weak transcription	H9 Derived Neuron 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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