Variant report

Variant	rs55653170
Chromosome Location	chr7:78917349-78917350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10246925	0.97[AFR][1000 genomes]
rs10248245	0.91[AFR][1000 genomes]
rs10254566	0.92[AFR][1000 genomes]
rs10257920	0.97[AFR][1000 genomes]
rs10265495	0.92[AFR][1000 genomes]
rs10270882	0.97[AFR][1000 genomes]
rs10441342	0.80[AFR][1000 genomes]
rs17152129	1.00[AMR][1000 genomes]
rs28379793	0.97[AFR][1000 genomes]
rs28513656	0.97[AFR][1000 genomes]
rs28553964	0.91[AFR][1000 genomes]
rs28694694	1.00[AFR][1000 genomes]
rs58778670	0.92[AFR][1000 genomes]
rs73704120	0.97[AFR][1000 genomes]
rs73704122	0.92[AFR][1000 genomes]
rs73704148	0.97[AFR][1000 genomes]
rs73707603	1.00[AFR][1000 genomes]
rs73707609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs954896	0.97[AFR][1000 genomes]
rs9886064	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831041	chr7:78819499-78973222	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78912000-78917400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:78912000-78922200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:78913400-78920600	Weak transcription	HUVEC	blood vessel
4	chr7:78913800-78919800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:78913800-78920000	Weak transcription	NH-A	brain
6	chr7:78913800-78922400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:78913800-78923000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:78915400-78917400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:78915400-78918000	Weak transcription	NHDF-Ad	bronchial
10	chr7:78915400-78918200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:78915400-78919800	Weak transcription	A549	lung
12	chr7:78915400-78920200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:78915400-78920600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:78915600-78919800	Weak transcription	HMEC	breast
15	chr7:78915800-78919800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:78915800-78919800	Weak transcription	NHEK	skin
17	chr7:78915800-78920600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:78916800-78918200	Enhancers	Osteobl	bone
19	chr7:78916800-78918400	Enhancers	NHLF	lung

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