Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:54985006..54987163-chr2:54989443..54991408,2	K562	blood:
2	chr2:54984889..54987163-chr2:54988592..54991408,3	K562	blood:
3	chr2:54978781..54981427-chr2:54989483..54991414,2	MCF-7	breast:

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

rs_ID	r²[population]
rs11125544	0.91[ASN][1000 genomes]
rs11678461	0.92[ASN][1000 genomes]
rs11683128	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11690558	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11691922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891165	0.98[ASN][1000 genomes]
rs11897031	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11899655	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11901245	0.91[ASN][1000 genomes]
rs12613164	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12622172	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17046269	0.81[EUR][1000 genomes]
rs17046310	0.93[ASN][1000 genomes]
rs17046312	0.93[ASN][1000 genomes]
rs17521852	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35559436	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58350716	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6709473	0.90[ASN][1000 genomes]
rs6713115	0.90[ASN][1000 genomes]
rs6761960	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72915588	0.91[ASN][1000 genomes]
rs72917512	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72917514	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv1844855	chr2:54987215-55012202	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56320255	SPTBN1	cis	Whole Blood	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54983600-54991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:54984800-54991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:54985200-54990800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:54985800-54995400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:54986400-54991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:54986400-54991600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:54986800-54991200	Weak transcription	NHEK	skin
8	chr2:54987800-54990800	Weak transcription	Spleen	Spleen

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