Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:151650666..151651425-chr5:151728944..151730018,3	MCF-7	breast:
2	chr5:151151272..151152862-chr5:151649756..151652539,2	MCF-7	breast:
3	chr5:151522076..151522840-chr5:151650800..151651429,3	MCF-7	breast:
4	chr5:151204622..151206484-chr5:151650636..151651662,12	MCF-7	breast:
5	chr5:151560448..151561140-chr5:151651042..151651572,2	MCF-7	breast:
6	chr5:151549711..151550252-chr5:151650725..151651679,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145907	Chromatin interaction
ENSG00000177556	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11950895	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11951697	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12515700	1.00[ASN][1000 genomes]
rs12717855	0.86[ASN][1000 genomes]
rs13163589	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13174082	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13182827	0.80[ASN][1000 genomes]
rs1366608	0.89[ASN][1000 genomes]
rs1376640	0.89[ASN][1000 genomes]
rs17663037	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17663169	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864198	0.89[ASN][1000 genomes]
rs2112694	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112695	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34789586	1.00[ASN][1000 genomes]
rs6579922	1.00[ASN][1000 genomes]
rs6870899	0.89[ASN][1000 genomes]
rs6878435	1.00[ASN][1000 genomes]
rs6888966	0.96[ASN][1000 genomes]
rs7722799	1.00[ASN][1000 genomes]
rs7724185	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv1023828	chr5:151522149-151956217	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830519	chr5:151588627-151800192	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11951018	RBM22	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151644800-151651200	Weak transcription	Ovary	ovary
2	chr5:151649000-151651200	Enhancers	Right Atrium	heart
3	chr5:151649000-151651400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:151649200-151651200	Enhancers	HMEC	breast
5	chr5:151649200-151651400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:151649600-151651400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr5:151649600-151652200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:151650400-151653200	Weak transcription	Left Ventricle	heart
9	chr5:151650800-151651200	Enhancers	Stomach Mucosa	stomach
10	chr5:151650800-151651600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:151651000-151651400	Enhancers	Adipose Nuclei	Adipose
12	chr5:151651000-151651800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:151651000-151651800	Enhancers	Aorta	Aorta
14	chr5:151651000-151651800	Enhancers	Pancreatic Islets	Pancreatic Islet

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