Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:73156426..73159049-chr2:73199011..73201111,2	MCF-7	breast:
2	chr2:73150450..73152799-chr2:73155777..73158715,2	MCF-7	breast:
3	chr2:73150258..73153169-chr2:73155891..73159303,4	K562	blood:
4	chr2:73151599..73154763-chr2:73155312..73159264,4	MCF-7	breast:
5	chr2:73114340..73115900-chr2:73157472..73159189,2	K562	blood:
6	chr2:73120421..73123363-chr2:73158369..73162511,4	MCF-7	breast:
7	chr2:72347829..72350324-chr2:73155970..73158917,2	K562	blood:

Variant related genes	Relation type
ENSG00000135638	Chromatin interaction
ENSG00000116096	Chromatin interaction

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

rs_ID	r²[population]
rs10183113	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10185826	0.85[JPT][hapmap]
rs10195562	0.85[CEU][hapmap]
rs10196568	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1048704	0.95[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11686652	0.97[ASN][1000 genomes]
rs12473812	0.85[JPT][hapmap]
rs17008501	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1898442	0.85[JPT][hapmap]
rs2077586	0.83[YRI][hapmap]
rs2164733	0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs59833760	0.95[ASN][1000 genomes]
rs59924850	0.97[ASN][1000 genomes]
rs6728203	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745468	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs6748324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757051	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73945638	0.97[ASN][1000 genomes]
rs755409	0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs999494	0.85[JPT][hapmap]

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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10196456	SFXN5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73156600-73158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:73157000-73163200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:73158000-73159600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:73158000-73160000	Enhancers	Osteobl	bone
5	chr2:73158200-73158800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:73158200-73159600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:73158200-73159600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:73158200-73159600	Enhancers	NH-A	brain
9	chr2:73158200-73159800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:73158200-73159800	Enhancers	HMEC	breast
11	chr2:73158200-73159800	Enhancers	HSMM	muscle
12	chr2:73158200-73160200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:73158400-73159200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:73158400-73159400	Enhancers	Fetal Brain Male	brain
15	chr2:73158400-73159600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:73158400-73159600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:73158400-73160200	Genic enhancers	Fetal Brain Female	brain

Quick Search: