Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:178628572..178630202-chr2:178634599..178638462,3	K562	blood:
2	chr2:178632678..178634797-chr2:178635838..178638323,2	K562	blood:
3	chr2:178636693..178638193-chr8:43095088..43096912,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10178473	0.80[ASN][1000 genomes]
rs10178858	0.80[ASN][1000 genomes]
rs10178916	0.80[ASN][1000 genomes]
rs10182017	0.84[ASN][1000 genomes]
rs13395965	0.83[ASN][1000 genomes]
rs13396065	0.83[ASN][1000 genomes]
rs13396537	0.83[ASN][1000 genomes]
rs13421315	0.96[ASN][1000 genomes]
rs13421345	0.83[ASN][1000 genomes]
rs13421415	0.96[ASN][1000 genomes]
rs1438040	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1438042	0.83[ASN][1000 genomes]
rs1530035	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530036	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754996	0.96[ASN][1000 genomes]
rs3770036	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770044	0.93[ASN][1000 genomes]
rs3770045	0.96[ASN][1000 genomes]
rs4297923	0.81[ASN][1000 genomes]
rs56314683	0.83[ASN][1000 genomes]
rs56690966	0.83[ASN][1000 genomes]
rs57342997	0.83[ASN][1000 genomes]
rs6433694	0.81[ASN][1000 genomes]
rs6706739	0.96[ASN][1000 genomes]
rs6708580	0.82[ASN][1000 genomes]
rs6709966	0.83[ASN][1000 genomes]
rs6718100	0.82[ASN][1000 genomes]
rs6718657	0.83[ASN][1000 genomes]
rs6718860	0.84[ASN][1000 genomes]
rs6718993	0.83[ASN][1000 genomes]
rs6726253	0.83[ASN][1000 genomes]
rs6726502	0.83[ASN][1000 genomes]
rs6733980	0.81[ASN][1000 genomes]
rs6743821	0.83[ASN][1000 genomes]
rs6751656	0.83[ASN][1000 genomes]
rs6752264	0.83[ASN][1000 genomes]
rs6758508	0.83[ASN][1000 genomes]
rs7563242	0.95[ASN][1000 genomes]
rs7605091	0.96[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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178634600-178637400	Enhancers	HMEC	breast
2	chr2:178634800-178637200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:178635000-178637400	Enhancers	HepG2	liver
4	chr2:178636400-178637200	Weak transcription	NHEK	skin

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