Variant report

Variant	rs16916320
Chromosome Location	chr8:94991699-94991700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:94928511..94930316-chr8:94990324..94992311,2	MCF-7	breast:
2	chr8:94987851..94989359-chr8:94989772..94991888,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264448	Chromatin interaction
ENSG00000164951	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs16916327	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115925	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[TSI][hapmap]
rs3115936	0.85[ASN][1000 genomes]
rs3115937	0.85[ASN][1000 genomes]
rs3115941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3115946	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133997	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3133999	0.82[ASN][1000 genomes]
rs3134000	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134001	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134002	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134003	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134004	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134005	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3134006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134007	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134011	1.00[CHB][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134013	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3134016	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58866863	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61495155	0.89[EUR][1000 genomes]
rs62522989	0.85[ASN][1000 genomes]
rs62523005	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62523006	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62523009	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62523010	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62523011	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62523014	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523015	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523016	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7006289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7836063	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7840040	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[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	esv2754970	chr8:94675324-94991724	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv518975	chr8:94985722-94992958	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16916320	CINP	trans	brain	seeQTL
rs16916320	DHCR7	trans	brain	seeQTL
rs16916320	AKR1C2	trans	brain	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94989600-94994400	Enhancers	Fetal Intestine Small	intestine
2	chr8:94990800-94992000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:94991200-94991800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:94991200-94992600	Enhancers	Gastric	stomach
5	chr8:94991200-94993000	Enhancers	Pancreas	Pancrea
6	chr8:94991200-94993200	Enhancers	Stomach Mucosa	stomach
7	chr8:94991200-94993600	Enhancers	Ovary	ovary
8	chr8:94991200-94994400	Enhancers	Fetal Intestine Large	intestine
9	chr8:94991400-94992400	Enhancers	Placenta	Placenta
10	chr8:94991400-94993400	Enhancers	Fetal Lung	lung
11	chr8:94991400-94993400	Weak transcription	HMEC	breast
12	chr8:94991600-94993200	Enhancers	Duodenum Smooth Muscle	Duodenum

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