Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48730571..48732164-chr13:48738258..48740910,2	K562	blood:
2	chr13:48738757..48741557-chr13:48751933..48753971,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12870184	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875956	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010173	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561441	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561443	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7333467	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9526462	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534971	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9534973	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534974	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534976	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534980	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534982	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534985	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534987	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562809	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562811	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568024	0.81[ASN][1000 genomes]
rs9568035	0.84[CHB][hapmap]
rs9634814	0.96[EUR][1000 genomes];0.97[ASN][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	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7320402	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48734000-48739000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:48735400-48743600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:48735600-48739000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:48735800-48740600	Weak transcription	NHEK	skin
5	chr13:48735800-48740800	Weak transcription	HMEC	breast
6	chr13:48736000-48739000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr13:48736000-48739600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:48736000-48739800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:48736200-48740600	Weak transcription	Esophagus	oesophagus
10	chr13:48737800-48740600	Weak transcription	Fetal Lung	lung
11	chr13:48738000-48739000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:48738000-48739600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr13:48738200-48739800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr13:48738200-48746200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr13:48738800-48739000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:48738800-48739200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr13:48738800-48739200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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