Variant report

Variant	rs2680659
Chromosome Location	chr3:53681113-53681114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53674896..53676899-chr3:53679106..53681380,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13076915	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs13086947	0.89[EUR][1000 genomes]
rs17053285	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17053295	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17053338	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs2292918	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2612020	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633708	0.82[ASN][1000 genomes]
rs2633709	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2680657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2946522	0.85[CHB][hapmap]
rs36003262	0.93[ASN][1000 genomes]
rs36006337	0.98[EUR][1000 genomes]
rs3774483	1.00[JPT][hapmap]
rs3774484	0.95[ASN][1000 genomes]
rs3774485	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3774487	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3774488	0.85[CHB][hapmap]
rs3774490	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3774499	0.93[ASN][1000 genomes]
rs3774500	0.93[ASN][1000 genomes]
rs3774503	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3774513	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3774521	0.86[ASN][1000 genomes]
rs3774524	0.82[ASN][1000 genomes]
rs3821853	0.84[CHB][hapmap]
rs55999888	0.88[ASN][1000 genomes]
rs62621128	0.82[EUR][1000 genomes]
rs6788419	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs71301841	0.81[EUR][1000 genomes]
rs71301847	0.82[EUR][1000 genomes]
rs72967859	0.86[ASN][1000 genomes]
rs72978531	0.91[ASN][1000 genomes]
rs73840150	0.83[EUR][1000 genomes]
rs898412	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs898413	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs898414	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9311511	0.82[ASN][1000 genomes]
rs9848595	0.84[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53652800-53684000	Weak transcription	Right Atrium	heart
2	chr3:53666400-53681400	Weak transcription	Fetal Lung	lung
3	chr3:53676800-53688600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:53677600-53700000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:53678000-53681400	Weak transcription	Fetal Intestine Small	intestine
6	chr3:53678000-53687000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:53679200-53684400	Weak transcription	Fetal Brain Female	brain
8	chr3:53679800-53681600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr3:53679800-53681600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:53680800-53681200	Weak transcription	Fetal Intestine Large	intestine
11	chr3:53680800-53681600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:53680800-53682400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr3:53680800-53683800	Weak transcription	Psoas Muscle	Psoas
14	chr3:53681000-53682600	Enhancers	Fetal Kidney	kidney
15	chr3:53681000-53683800	Weak transcription	GM12878-XiMat	blood

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