Variant report

Variant	rs1471560
Chromosome Location	chr8:39967194-39967195
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10086014	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10086939	0.88[ASN][1000 genomes]
rs10092175	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095401	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958600	0.89[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap]
rs12682158	0.82[CHB][hapmap]
rs1383603	0.86[EUR][1000 genomes]
rs1471559	0.89[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1471561	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1481063	0.86[EUR][1000 genomes]
rs2929077	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2929078	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2929080	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2929081	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2929082	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2929083	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2929084	0.95[EUR][1000 genomes]
rs2929085	0.95[EUR][1000 genomes]
rs2929086	0.91[EUR][1000 genomes]
rs2929095	0.85[EUR][1000 genomes]
rs2955924	0.95[EUR][1000 genomes]
rs2955925	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2955926	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2955927	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2981129	0.86[EUR][1000 genomes]
rs2981136	0.85[EUR][1000 genomes]
rs2981177	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2981178	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2981179	0.89[EUR][1000 genomes]
rs7010922	0.81[CEU][hapmap];0.90[CHB][hapmap]
rs9772008	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1471560	STAR	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39951000-39968000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:39958000-39970800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:39959600-39976400	Weak transcription	Pancreas	Pancrea
4	chr8:39961800-39970400	Weak transcription	Placenta	Placenta
5	chr8:39962800-39968800	Weak transcription	Esophagus	oesophagus
6	chr8:39966200-39967400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:39966400-39967400	Enhancers	Stomach Mucosa	stomach
8	chr8:39966600-39967600	Enhancers	HUVEC	blood vessel
9	chr8:39966600-39968600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:39966600-39968800	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:39966600-39969000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:39966600-39969000	Weak transcription	A549	lung
13	chr8:39966800-39967200	Enhancers	Fetal Lung	lung
14	chr8:39967000-39967200	Enhancers	Ovary	ovary
15	chr8:39967000-39967400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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