Variant report

Variant	rs17815428
Chromosome Location	chr8:118690679-118690680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1508564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1508565	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17753209	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17753221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17753372	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17753630	0.89[AMR][1000 genomes]
rs17815416	0.98[ASN][1000 genomes]
rs17815452	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17815523	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17815657	0.89[AMR][1000 genomes]
rs17815776	0.84[AMR][1000 genomes]
rs2136106	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv891410	chr8:118684994-118730344	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118684800-118693600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:118685000-118694200	Weak transcription	NHLF	lung
3	chr8:118689000-118694200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:118689200-118692200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:118689200-118698200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:118689200-118698600	Weak transcription	HMEC	breast
7	chr8:118689200-118718600	Weak transcription	Osteobl	bone
8	chr8:118689400-118695200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:118689800-118692200	Weak transcription	NHEK	skin
10	chr8:118690200-118690800	Enhancers	Dnd41	blood
11	chr8:118690400-118690800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:118690400-118690800	Enhancers	HSMM	muscle
13	chr8:118690400-118690800	Enhancers	NHDF-Ad	bronchial
14	chr8:118690400-118691000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:118690400-118691200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:118690600-118690800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:118690600-118691000	Enhancers	Fetal Brain Male	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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