Variant report

Variant	rs799930
Chromosome Location	chr7:80098487-80098488
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	chr7:80096594..80099585-chr7:80101660..80104577,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1473122	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473123	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17147968	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17153970	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17153990	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1990063	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2074673	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2074674	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2074675	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2906196	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2906198	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2944398	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2944400	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4615513	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57789760	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58740792	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60141912	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73159414	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73159417	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs799927	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs799936	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs799937	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv831042	chr7:79984079-80122312	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030961	chr7:80032525-80197468	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538991	chr7:80032525-80197468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv949205	chr7:80039695-80211200	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv888523	chr7:80088592-80142217	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv607680	chr7:80097576-80142217	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr7:80095600-80106800	Weak transcription	Right Atrium	heart
2	chr7:80096600-80101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:80096600-80102400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:80096800-80099400	Weak transcription	NH-A	brain
5	chr7:80096800-80101000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:80096800-80101600	Weak transcription	Small Intestine	intestine
7	chr7:80096800-80102000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:80096800-80102000	Weak transcription	Liver	Liver
9	chr7:80096800-80102000	Weak transcription	HepG2	liver
10	chr7:80096800-80113000	Enhancers	Hela-S3	cervix
11	chr7:80097000-80099000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:80097000-80101000	Weak transcription	Adipose Nuclei	Adipose
13	chr7:80097000-80101400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:80097200-80100800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:80097200-80100800	Weak transcription	Fetal Intestine Large	intestine
16	chr7:80097200-80101000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:80097200-80101000	Weak transcription	Fetal Heart	heart
18	chr7:80097200-80101600	Weak transcription	A549	lung
19	chr7:80097400-80100800	Weak transcription	Fetal Intestine Small	intestine
20	chr7:80097800-80098600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:80098200-80098800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:80098400-80100600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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