Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:54985673..54988150-chr2:54994047..54996597,3	K562	blood:
2	chr2:54985006..54987163-chr2:54989443..54991408,2	K562	blood:
3	chr2:54984889..54987163-chr2:54988592..54991408,3	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10201670	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13390196	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13396649	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13401661	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13412839	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13422751	0.89[ASN][1000 genomes]
rs17046283	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17046292	0.94[ASN][1000 genomes]
rs2033414	0.86[ASN][1000 genomes]
rs2033415	0.86[ASN][1000 genomes]
rs4671974	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671975	0.91[AFR][1000 genomes]
rs4671976	0.89[ASN][1000 genomes]
rs59516754	0.86[ASN][1000 genomes]
rs62136877	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6712305	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6733119	0.84[AFR][1000 genomes]
rs7565441	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7567746	0.90[AFR][1000 genomes]
rs7567900	0.86[AFR][1000 genomes]
rs7600540	0.84[AFR][1000 genomes]
rs9711112	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr2:54982200-54986400	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:54983600-54991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:54984600-54986200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:54984600-54986800	Enhancers	NHEK	skin
5	chr2:54984800-54991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:54985200-54990800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:54985400-54986400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:54985600-54986200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:54985600-54986200	Enhancers	GM12878-XiMat	blood
10	chr2:54985600-54988600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:54985800-54986200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:54985800-54995400	Weak transcription	Primary B cells from cord blood	blood

Quick Search: