Variant report

Variant	rs3768654
Chromosome Location	chr2:152714680-152714681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12624108	1.00[EUR][1000 genomes]
rs16830417	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754533	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3754534	1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4077123	1.00[EUR][1000 genomes]
rs59269531	1.00[EUR][1000 genomes]
rs72621646	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72621647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72621648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:152695000-152732600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:152699800-152742000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:152700000-152731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:152700000-152732600	Weak transcription	Right Atrium	heart
5	chr2:152710200-152716800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:152710200-152725800	Weak transcription	Fetal Brain Female	brain
7	chr2:152710400-152715200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:152710400-152725600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:152710800-152724200	Weak transcription	Aorta	Aorta
10	chr2:152711200-152715800	Weak transcription	HepG2	liver
11	chr2:152713000-152747800	Weak transcription	Brain Germinal Matrix	brain
12	chr2:152714000-152714800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:152714600-152715000	Enhancers	Placenta	Placenta

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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