Variant report

Variant	rs12476928
Chromosome Location	chr2:113370494-113370495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11676691	0.82[EUR][1000 genomes]
rs11677284	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11678996	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11680446	0.89[ASN][1000 genomes]
rs13023016	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3088301	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35743012	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4547533	0.83[EUR][1000 genomes]
rs4849078	0.85[EUR][1000 genomes]
rs4849079	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4849084	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62158654	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6724434	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs908545	0.86[EUR][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	chr2:113364600-113370800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:113364600-113372800	Weak transcription	Fetal Stomach	stomach
13	chr2:113365600-113372000	Weak transcription	Brain Anterior Caudate	brain
14	chr2:113370000-113370600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:113370000-113372200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:113370200-113370600	Enhancers	HepG2	liver
17	chr2:113370400-113383800	Weak transcription	Fetal Muscle Leg	muscle

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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

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