Variant report

Variant	rs56330158
Chromosome Location	chr7:79716224-79716225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10231925	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10237290	0.83[AMR][1000 genomes]
rs10237415	0.83[AMR][1000 genomes]
rs10238912	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10242482	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10247323	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10260857	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11974166	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11977309	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11977332	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12333681	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28630699	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34872162	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35802637	0.93[AFR][1000 genomes]
rs55687904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56361294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56761500	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57082352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57137296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57291254	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58876952	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59312847	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61390031	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61586173	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73374533	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73374541	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73374589	0.85[AFR][1000 genomes]
rs73374591	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73376508	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73376538	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73376541	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73376565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73378605	1.00[AMR][1000 genomes]
rs73708417	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73708491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73708493	0.97[AFR][1000 genomes];1.00[AMR][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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv607678	chr7:79665817-79726578	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1027494	chr7:79693976-79760332	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79707600-79716600	Weak transcription	Brain Substantia Nigra	brain
2	chr7:79708000-79716800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:79708400-79716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:79708400-79716800	Weak transcription	NHEK	skin
5	chr7:79712200-79716400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:79714800-79717200	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:79715000-79716400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:79715200-79716600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:79715800-79717200	Enhancers	Placenta	Placenta
10	chr7:79716000-79720800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:79716200-79716400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:79716200-79716400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:79716200-79716400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:79716200-79716400	Enhancers	Adipose Nuclei	Adipose
15	chr7:79716200-79716400	Enhancers	Osteobl	bone
16	chr7:79716200-79716800	Enhancers	NH-A	brain

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