Variant report

Variant	rs493722
Chromosome Location	chr7:79938779-79938780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13224358	0.90[ASN][1000 genomes]
rs304732	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs306728	0.95[ASN][1000 genomes]
rs37919	0.98[ASN][1000 genomes]
rs37921	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs37929	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs37930	0.95[ASN][1000 genomes]
rs43222	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731318	0.87[ASN][1000 genomes]
rs4731329	0.90[ASN][1000 genomes]
rs4731336	0.97[ASN][1000 genomes]
rs475103	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs504540	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs579611	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs601671	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs623820	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs673193	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[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	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	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr7:79932600-79938800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:79932800-79938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:79936800-79941200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:79936800-79941200	Weak transcription	Osteobl	bone
5	chr7:79937000-79938800	Weak transcription	Primary T cells from cord blood	blood
6	chr7:79937000-79941000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:79937000-79941600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:79937200-79941000	Weak transcription	A549	lung
9	chr7:79937200-79941000	Weak transcription	HMEC	breast
10	chr7:79937200-79941200	Weak transcription	NHLF	lung
11	chr7:79937200-79941400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:79937200-79949000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:79937400-79940000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:79937400-79940400	Weak transcription	NHEK	skin
15	chr7:79937400-79941200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:79938400-79941000	Weak transcription	NH-A	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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