Variant report

Variant	rs11129989
Chromosome Location	chr3:42994980-42994981
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11711770	0.80[MEX][hapmap]
rs12490902	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs12495968	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1533697	0.80[MEX][hapmap]
rs17074946	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17074953	0.97[EUR][1000 genomes]
rs17075084	0.87[MEX][hapmap]
rs62248964	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62248965	0.97[EUR][1000 genomes]
rs6768791	0.87[ASW][hapmap];0.91[CEU][hapmap];0.96[GIH][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.97[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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr3:42978400-42995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:42978400-43003000	Weak transcription	Fetal Intestine Small	intestine
3	chr3:42978400-43015400	Weak transcription	Pancreas	Pancrea
4	chr3:42978600-43003000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:42978600-43020400	Weak transcription	Ovary	ovary
6	chr3:42981400-42995800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:42983600-43003400	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:42985000-43003000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:42985200-42997400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:42985200-43003000	Weak transcription	Brain Angular Gyrus	brain
11	chr3:42988400-43015400	Weak transcription	Placenta	Placenta
12	chr3:42993200-42995400	Weak transcription	HSMMtube	muscle
13	chr3:42994600-43006000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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