Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10088632	1.00[CEU][hapmap]
rs10109062	1.00[CEU][hapmap]
rs10505320	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10505322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355060	1.00[ASN][1000 genomes]
rs16890109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890116	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890119	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890122	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17474839	1.00[CEU][hapmap]
rs17475323	1.00[CEU][hapmap]
rs17475358	1.00[CEU][hapmap]
rs17475365	1.00[CEU][hapmap]
rs17504170	1.00[CEU][hapmap]
rs17504205	1.00[CEU][hapmap]
rs17753630	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17815657	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17815776	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2136106	0.86[CHB][hapmap]
rs4377987	1.00[CEU][hapmap]
rs7357537	1.00[CEU][hapmap]
rs7462118	1.00[CEU][hapmap]
rs9297572	1.00[CEU][hapmap]
rs9656924	1.00[CEU][hapmap]
rs9792392	1.00[CEU][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16890111	ALDH2	trans	lymphoblastoid	seeQTL

Chromatin state (count:14 , 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	chr8:118714800-118718800	Weak transcription	HSMMtube	muscle
6	chr8:118714800-118725800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:118715600-118718800	Weak transcription	Fetal Lung	lung
8	chr8:118715800-118718800	Weak transcription	NHDF-Ad	bronchial
9	chr8:118715800-118722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:118718000-118725400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:118718600-118719200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:118718600-118719400	Enhancers	Osteobl	bone
13	chr8:118718600-118719800	Enhancers	HSMM	muscle
14	chr8:118718600-118720000	Enhancers	HUVEC	blood vessel

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