Variant report

Variant	rs7648079
Chromosome Location	chr3:69535555-69535556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69534423..69536468-chr3:69538734..69540832,3	K562	blood:
2	chr3:69534423..69536468-chr3:69538828..69540832,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13323667	1.00[EUR][1000 genomes]
rs17005899	1.00[EUR][1000 genomes]
rs58587482	1.00[EUR][1000 genomes]
rs60962399	1.00[EUR][1000 genomes]
rs61048195	1.00[EUR][1000 genomes]
rs7355895	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9310162	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9810578	1.00[EUR][1000 genomes]
rs9836039	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9837414	1.00[EUR][1000 genomes]
rs9848468	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9862455	1.00[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	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69513400-69549200	Weak transcription	HMEC	breast
2	chr3:69522000-69543200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:69524200-69543600	Weak transcription	NHEK	skin
4	chr3:69533200-69539600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:69533400-69536600	Enhancers	Fetal Heart	heart
6	chr3:69533800-69535600	Enhancers	Brain Substantia Nigra	brain
7	chr3:69533800-69535800	Enhancers	Ovary	ovary
8	chr3:69533800-69535800	Enhancers	Right Ventricle	heart
9	chr3:69533800-69536400	Enhancers	Fetal Lung	lung
10	chr3:69534200-69536800	Enhancers	Brain Hippocampus Middle	brain
11	chr3:69534400-69536800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:69534600-69539600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:69534600-69539600	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:69534800-69548200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:69535000-69536600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:69535000-69539600	Weak transcription	Spleen	Spleen
17	chr3:69535000-69541000	Weak transcription	Left Ventricle	heart
18	chr3:69535000-69541200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:69535200-69539600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:69535200-69540400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:69535200-69549000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:69535400-69536400	Weak transcription	Brain Inferior Temporal Lobe	brain

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