Variant report

Variant	rs304588
Chromosome Location	chr5:15452818-15452819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11955129	1.00[AMR][1000 genomes]
rs304540	1.00[AMR][1000 genomes]
rs304553	1.00[AMR][1000 genomes]
rs304585	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs304587	0.88[AFR][1000 genomes]
rs524928	1.00[AMR][1000 genomes]
rs566631	1.00[AMR][1000 genomes]
rs590066	1.00[AMR][1000 genomes]
rs592200	1.00[AMR][1000 genomes]
rs599166	1.00[AMR][1000 genomes]
rs626130	1.00[AMR][1000 genomes]
rs641200	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs644859	1.00[AMR][1000 genomes]
rs6554879	1.00[AMR][1000 genomes]
rs6554881	1.00[AMR][1000 genomes]
rs665158	0.88[AFR][1000 genomes]
rs667260	1.00[AMR][1000 genomes]
rs670272	1.00[AMR][1000 genomes]
rs676820	0.85[AFR][1000 genomes];1.00[AMR][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	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3360982	chr5:15448952-15453750	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15451000-15453800	Enhancers	Colon Smooth Muscle	Colon
2	chr5:15451200-15453200	Enhancers	Rectal Smooth Muscle	rectum
3	chr5:15451600-15453000	Enhancers	Fetal Heart	heart
4	chr5:15451600-15453400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:15451800-15453000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:15451800-15453000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:15451800-15453800	Enhancers	Fetal Stomach	stomach
8	chr5:15452000-15453000	Weak transcription	Ovary	ovary
9	chr5:15452200-15453800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:15452600-15453000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:15452800-15453000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr5:15452800-15453200	Enhancers	Cortex derived primary cultured neurospheres	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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