Variant report

Variant	rs28451593
Chromosome Location	chr7:107688113-107688114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10257477	1.00[EUR][1000 genomes]
rs10260756	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487091	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487092	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334173	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134747	1.00[EUR][1000 genomes]
rs17154865	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17154870	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17154878	1.00[EUR][1000 genomes]
rs6962826	1.00[EUR][1000 genomes]
rs73424746	1.00[EUR][1000 genomes]
rs73424749	1.00[EUR][1000 genomes]
rs7801206	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7805768	0.88[AMR][1000 genomes];1.00[EUR][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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831088	chr7:107497100-107693680	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107685000-107690400	Weak transcription	HepG2	liver
2	chr7:107686000-107691200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:107686400-107692400	Weak transcription	Fetal Stomach	stomach
4	chr7:107686600-107688400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:107686600-107691400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:107686600-107703000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:107687600-107689400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:107688000-107688200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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