Variant report

Variant	rs17815657
Chromosome Location	chr8:118719918-118719919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10505320	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505322	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1355060	0.98[ASN][1000 genomes]
rs1508564	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16890109	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890111	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890116	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17753209	1.00[AFR][1000 genomes]
rs17753221	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17753372	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17753630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17815416	1.00[AFR][1000 genomes]
rs17815428	0.89[AMR][1000 genomes]
rs17815523	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17815776	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4490876	1.00[AFR][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	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
5	nsv1018830	chr8:118705140-118720649	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118694600-118723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:118702200-118724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:118708600-118725200	Weak transcription	Ovary	ovary
4	chr8:118710400-118737200	Weak transcription	Aorta	Aorta
5	chr8:118714800-118725800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:118715800-118722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:118718000-118725400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:118718600-118720000	Enhancers	HUVEC	blood vessel
9	chr8:118719200-118723000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:118719400-118724600	Weak transcription	Osteobl	bone
11	chr8:118719400-118724800	Weak transcription	NHDF-Ad	bronchial
12	chr8:118719800-118722600	Weak transcription	HSMMtube	muscle
13	chr8:118719800-118724800	Weak transcription	HSMM	muscle

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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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