Variant report

Variant	rs8177242
Chromosome Location	chr3:133478314-133478315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11915225	1.00[AMR][1000 genomes]
rs11919310	1.00[AMR][1000 genomes]
rs41296602	0.82[AFR][1000 genomes]
rs41298987	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58912773	1.00[AMR][1000 genomes]
rs60288118	1.00[AMR][1000 genomes]
rs6775081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6803647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72976364	1.00[AMR][1000 genomes]
rs72976365	1.00[AMR][1000 genomes]
rs8177195	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177202	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177226	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177229	1.00[AMR][1000 genomes]
rs8177234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177238	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177282	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177298	1.00[AFR][1000 genomes];1.00[AMR][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	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv877508	chr3:133476852-133482662	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133465600-133483000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:133472400-133480600	Strong transcription	Brain Angular Gyrus	brain
3	chr3:133473400-133480800	Strong transcription	Brain Inferior Temporal Lobe	brain
4	chr3:133474000-133480200	Strong transcription	Brain Hippocampus Middle	brain
5	chr3:133475000-133487000	Weak transcription	Fetal Brain Male	brain
6	chr3:133475200-133480800	Strong transcription	HepG2	liver
7	chr3:133475200-133482800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:133476200-133478600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:133476400-133478400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:133476800-133478800	Strong transcription	Adipose Nuclei	Adipose
11	chr3:133477000-133478800	Strong transcription	Brain Cingulate Gyrus	brain
12	chr3:133477000-133490400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:133477200-133478400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:133477200-133480400	Strong transcription	Brain Anterior Caudate	brain
15	chr3:133477800-133480800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:133478200-133478400	Genic enhancers	Liver	Liver
17	chr3:133478200-133478600	Genic enhancers	Brain Substantia Nigra	brain
18	chr3:133478200-133480000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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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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