Variant report

Variant	rs600600
Chromosome Location	chr1:78874600-78874601
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:14)

rs_ID	r²[population]
rs476763	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489704	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs490807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs491295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs500093	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs521134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs534967	0.97[AFR][1000 genomes]
rs536168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs540676	0.82[AFR][1000 genomes]
rs544892	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs648425	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs669733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv482697	chr1:78786028-78935333	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv3434125	chr1:78872980-78890985	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78862400-78874600	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:78868200-78879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:78873400-78875400	Enhancers	NHDF-Ad	bronchial
4	chr1:78873800-78874800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:78874200-78874600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:78874200-78875000	Enhancers	Osteobl	bone
7	chr1:78874200-78875200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:78874400-78874800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:78874400-78875000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:78874600-78875000	Enhancers	Fetal Muscle Leg	muscle
11	chr1:78874600-78875200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:78874600-78875400	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:78874600-78875600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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