Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69938259..69942128-chr8:69942869..69947061,5	MCF-7	breast:
2	chr8:69763017..69766748-chr8:69941633..69945462,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254337	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16935317	1.00[ASN][1000 genomes]
rs17613869	1.00[ASN][1000 genomes]
rs17614176	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17691930	1.00[ASN][1000 genomes]
rs17692096	1.00[ASN][1000 genomes]
rs17692114	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511327	1.00[ASN][1000 genomes]
rs62511818	1.00[ASN][1000 genomes]
rs62514673	1.00[ASN][1000 genomes]
rs62514674	1.00[ASN][1000 genomes]
rs62514675	1.00[ASN][1000 genomes]
rs62514677	1.00[ASN][1000 genomes]
rs62514680	1.00[ASN][1000 genomes]
rs62514681	1.00[ASN][1000 genomes]
rs62514686	1.00[ASN][1000 genomes]
rs62514687	1.00[ASN][1000 genomes]
rs62514688	1.00[ASN][1000 genomes]
rs62514689	1.00[ASN][1000 genomes]
rs62514728	1.00[ASN][1000 genomes]
rs62514729	1.00[ASN][1000 genomes]
rs62514730	1.00[ASN][1000 genomes]
rs62514742	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7350143	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv33049	chr8:69836813-69943360	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv982081	chr8:69929430-69943096	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69930800-69942800	Weak transcription	Osteobl	bone
2	chr8:69938600-69942800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:69939000-69943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:69941000-69943600	Weak transcription	NHEK	skin
5	chr8:69941000-69951600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:69941200-69942000	Weak transcription	HSMM	muscle
7	chr8:69941400-69943200	Enhancers	Brain Hippocampus Middle	brain
8	chr8:69941600-69943200	Enhancers	Colon Smooth Muscle	Colon
9	chr8:69941800-69946000	Weak transcription	Aorta	Aorta

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