Variant report

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13062035	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13076915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13086947	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14165	1.00[ASN][1000 genomes]
rs17053338	0.84[EUR][1000 genomes]
rs2612020	0.98[EUR][1000 genomes]
rs2680657	0.98[EUR][1000 genomes]
rs2680659	0.98[EUR][1000 genomes]
rs34565662	1.00[ASN][1000 genomes]
rs34723699	1.00[ASN][1000 genomes]
rs36077841	1.00[ASN][1000 genomes]
rs3774522	0.81[EUR][1000 genomes]
rs4687586	1.00[ASN][1000 genomes]
rs4687587	1.00[ASN][1000 genomes]
rs62250900	1.00[ASN][1000 genomes]
rs62621128	0.84[EUR][1000 genomes]
rs6445606	1.00[ASN][1000 genomes]
rs71301841	0.83[EUR][1000 genomes]
rs71301847	0.84[EUR][1000 genomes]
rs71301848	1.00[ASN][1000 genomes]
rs73840150	0.85[EUR][1000 genomes]
rs893362	1.00[ASN][1000 genomes]
rs920252	1.00[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:13 , 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	chr3:53667600-53680600	Weak transcription	Fetal Intestine Large	intestine
4	chr3:53676800-53688600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:53677600-53700000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:53678000-53681400	Weak transcription	Fetal Intestine Small	intestine
7	chr3:53678000-53687000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:53679200-53684400	Weak transcription	Fetal Brain Female	brain
9	chr3:53679400-53680800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:53679800-53681600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:53679800-53681600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr3:53680000-53680800	Enhancers	Psoas Muscle	Psoas
13	chr3:53680400-53681000	Weak transcription	Fetal Kidney	kidney

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