Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:90539432..90541214-chr5:90677599..90679175,2	MCF-7	breast:
2	chr5:90540304..90543080-chr5:90544867..90547195,2	MCF-7	breast:
3	chr5:90527291..90547553-chr5:90674171..90681359,33	K562	blood:
4	chr5:90535308..90537447-chr5:90538676..90541524,2	MCF-7	breast:
5	chr5:90538867..90541138-chr5:90677587..90679233,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12188638	0.87[EUR][1000 genomes]
rs12514996	1.00[AFR][1000 genomes]
rs12520306	1.00[AFR][1000 genomes]
rs12521670	1.00[AFR][1000 genomes]
rs12653995	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12658748	1.00[AFR][1000 genomes]
rs34107416	0.88[AMR][1000 genomes]
rs61156097	1.00[AFR][1000 genomes]
rs72786318	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72786321	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72786324	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72786325	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72786326	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72786329	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72786332	0.84[EUR][1000 genomes]
rs72786338	0.94[AMR][1000 genomes]
rs72786350	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72786353	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72786354	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72786358	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72786360	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9647558	0.94[AMR][1000 genomes];0.87[EUR][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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90525000-90542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:90540200-90541400	Enhancers	Fetal Heart	heart
3	chr5:90540400-90541200	Enhancers	Aorta	Aorta
4	chr5:90540400-90541200	Enhancers	Psoas Muscle	Psoas
5	chr5:90540400-90541200	Enhancers	Right Atrium	heart
6	chr5:90540400-90541200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr5:90540400-90541400	Enhancers	HSMMtube	muscle
8	chr5:90540800-90541400	Active TSS	Skeletal Muscle Male	skeletal muscle

Quick Search: