Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:16124061..16126597-chr7:16460526..16462153,2	MCF-7	breast:
2	chr7:16113784..16116426-chr7:16125295..16127374,2	K562	blood:
3	chr7:16119803..16122406-chr7:16123065..16126585,4	K562	blood:

Variant related genes	Relation type
ENSG00000214960	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1528136	0.89[ASN][1000 genomes]
rs1528147	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1528149	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17285792	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17286418	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17287882	0.80[ASN][1000 genomes]
rs17357253	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17357511	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17358277	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17359183	0.89[ASN][1000 genomes]
rs17359294	0.89[ASN][1000 genomes]
rs2389581	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28422957	0.82[EUR][1000 genomes]
rs3857708	0.85[ASN][1000 genomes]
rs3857709	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4621696	0.85[ASN][1000 genomes]
rs56290213	0.98[ASN][1000 genomes]
rs60333130	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62439474	0.89[ASN][1000 genomes]
rs62440849	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62440852	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62442360	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6952865	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73056339	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs740823	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv949309	chr7:15986709-16236162	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16117200-16126400	Weak transcription	Aorta	Aorta
2	chr7:16118200-16129400	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:16121800-16126400	Weak transcription	Gastric	stomach
4	chr7:16122200-16133000	Weak transcription	Psoas Muscle	Psoas
5	chr7:16122400-16135400	Weak transcription	Left Ventricle	heart
6	chr7:16124400-16126200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:16124400-16127400	Enhancers	HUVEC	blood vessel
8	chr7:16124400-16131400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:16124600-16125800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:16125000-16126200	Weak transcription	NHEK	skin
11	chr7:16125000-16126400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:16125200-16126200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:16125200-16126200	Weak transcription	HMEC	breast

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