Variant report

Variant	rs1355060
Chromosome Location	chr8:118717711-118717712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs10088632	1.00[CEU][hapmap]
rs10109062	1.00[CEU][hapmap]
rs10505320	0.98[ASN][1000 genomes]
rs10505322	1.00[ASN][1000 genomes]
rs16890109	1.00[ASN][1000 genomes]
rs16890111	1.00[ASN][1000 genomes]
rs16890116	1.00[ASN][1000 genomes]
rs16890119	0.98[ASN][1000 genomes]
rs16890122	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	0.95[ASN][1000 genomes]
rs17815657	0.98[ASN][1000 genomes]
rs17815776	0.95[ASN][1000 genomes]
rs2136106	0.86[CHB][hapmap];0.89[GIH][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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1355060	EGR4	trans	brain	seeQTL
rs1355060	FOS	trans	brain	seeQTL
rs1355060	STAT1	trans	brain	seeQTL
rs1355060	CCL3	trans	brain	seeQTL
rs1355060	EGR2	trans	brain	seeQTL
rs1355060	IFI44L	trans	brain	seeQTL
rs1355060	CCL4	trans	brain	seeQTL
rs1355060	IL8	trans	brain	seeQTL
rs1355060	PTGS2	trans	brain	seeQTL
rs1355060	FOSB	trans	brain	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118689200-118718600	Weak transcription	Osteobl	bone
2	chr8:118694600-118723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:118702200-118724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:118708600-118725200	Weak transcription	Ovary	ovary
5	chr8:118710400-118737200	Weak transcription	Aorta	Aorta
6	chr8:118714800-118718800	Weak transcription	HSMMtube	muscle
7	chr8:118714800-118725800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:118715600-118718800	Weak transcription	Fetal Lung	lung
9	chr8:118715800-118718800	Weak transcription	NHDF-Ad	bronchial
10	chr8:118715800-118722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:118716000-118718600	Weak transcription	HUVEC	blood vessel
12	chr8:118717000-118718000	Strong transcription	HSMM	muscle
13	chr8:118717400-118717800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:118717400-118718000	Enhancers	H9 Cell Line	embryonic stem cell

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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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