Variant report

Variant	rs2276836
Chromosome Location	chr3:53685039-53685040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11130375	0.80[AFR][1000 genomes]
rs12486415	0.94[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12492502	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1872999	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1906537	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2680658	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34078083	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3774515	0.94[CEU][hapmap];0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3821854	0.84[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs55819057	0.90[EUR][1000 genomes]
rs55948017	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62251938	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6763245	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6793312	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6806330	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs735652	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7648561	0.83[AMR][1000 genomes];0.90[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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53676800-53688600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:53677600-53700000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr3:53678000-53687000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:53681400-53685600	Weak transcription	Fetal Intestine Large	intestine
5	chr3:53681600-53686000	Weak transcription	Fetal Intestine Small	intestine
6	chr3:53682400-53686000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:53683800-53685600	Enhancers	GM12878-XiMat	blood
9	chr3:53684000-53685800	Enhancers	Stomach Smooth Muscle	stomach
10	chr3:53684000-53686200	Enhancers	Colon Smooth Muscle	Colon
11	chr3:53684200-53685200	Enhancers	Placenta	Placenta
12	chr3:53684200-53685400	Enhancers	Fetal Brain Male	brain
13	chr3:53684200-53692200	Weak transcription	Right Atrium	heart
14	chr3:53684400-53686000	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:53684600-53686000	Weak transcription	Fetal Lung	lung
16	chr3:53684800-53698600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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

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