Variant report

Variant	rs9772008
Chromosome Location	chr8:39956065-39956066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10086014	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10086939	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10092175	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10095401	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10958600	0.89[CEU][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1383603	0.88[EUR][1000 genomes]
rs1471559	0.89[CEU][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs1471560	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1481063	0.88[EUR][1000 genomes]
rs2929077	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2929078	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2929080	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2929081	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2929082	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2929083	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2929084	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2929085	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2929086	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2929095	0.87[EUR][1000 genomes]
rs2955924	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2955925	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2955926	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2955927	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2981129	0.88[EUR][1000 genomes]
rs2981134	0.81[EUR][1000 genomes]
rs2981136	0.87[EUR][1000 genomes]
rs2981177	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2981178	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2981179	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7010922	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs7846287	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1034355	chr8:39942179-39961432	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9772008	STAR	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39951000-39958600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:39951000-39968000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:39952600-39956400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:39952600-39957000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:39952600-39957000	Weak transcription	Placenta	Placenta
6	chr8:39954800-39958000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr8:39955000-39957000	Enhancers	A549	lung
8	chr8:39955200-39956400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr8:39955200-39957000	Enhancers	Hela-S3	cervix
10	chr8:39955200-39957600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr8:39955400-39957200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:39955400-39959600	Enhancers	Stomach Mucosa	stomach
13	chr8:39955800-39957800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:39956000-39956600	Weak transcription	NHDF-Ad	bronchial
15	chr8:39956000-39958600	Weak transcription	HUVEC	blood vessel
16	chr8:39956000-39963800	Weak transcription	Colon Smooth Muscle	Colon

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