Variant report

Variant	rs17053295
Chromosome Location	chr3:53686287-53686288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53685322..53687408-chr3:53707451..53709515,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17053285	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292918	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2612020	0.91[ASN][1000 genomes]
rs2633708	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2633709	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2680657	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2680659	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs36003262	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3774459	1.00[EUR][1000 genomes]
rs3774467	0.84[CHB][hapmap]
rs3774483	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs3774484	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3774485	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3774487	1.00[JPT][hapmap]
rs3774490	1.00[JPT][hapmap]
rs3774499	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3774500	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3774503	1.00[JPT][hapmap]
rs3774513	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3774521	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3774524	0.91[ASN][1000 genomes]
rs55999888	0.88[ASN][1000 genomes]
rs6788419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs715781	1.00[EUR][1000 genomes]
rs72967859	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72978531	1.00[ASN][1000 genomes]
rs73840122	1.00[EUR][1000 genomes]
rs898412	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs898413	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs898414	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9311511	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9848595	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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:12 , 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	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:53684200-53692200	Weak transcription	Right Atrium	heart
6	chr3:53684800-53698600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:53685400-53690000	Weak transcription	Fetal Brain Male	brain
8	chr3:53685600-53687000	Strong transcription	Fetal Intestine Large	intestine
9	chr3:53685800-53695800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:53686000-53686600	Strong transcription	Fetal Intestine Small	intestine
11	chr3:53686000-53687000	Strong transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:53686000-53688800	Strong transcription	Fetal Lung	lung

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