Variant report

Variant	rs4291250
Chromosome Location	chr8:67395445-67395446
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10092151	1.00[ASN][1000 genomes]
rs10095182	1.00[ASN][1000 genomes]
rs10095818	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099908	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100008	0.91[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108841	1.00[ASN][1000 genomes]
rs10113313	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10283103	0.93[MEX][hapmap]
rs11782087	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784186	1.00[ASN][1000 genomes]
rs11984980	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426905	1.00[ASN][1000 genomes]
rs1473817	1.00[ASN][1000 genomes]
rs16932829	1.00[ASN][1000 genomes]
rs17320665	1.00[ASN][1000 genomes]
rs17322654	1.00[ASN][1000 genomes]
rs1863639	1.00[ASN][1000 genomes]
rs28377354	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28497070	1.00[ASN][1000 genomes]
rs28505853	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609784	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664134	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4448262	1.00[CEU][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60798600	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006908	1.00[ASN][1000 genomes]
rs73691530	1.00[ASN][1000 genomes]
rs7831033	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9657084	0.91[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];1.00[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4291250	PRDM14	cis	parietal	SCAN
rs4291250	ADHFE1	cis	parietal	SCAN
rs4291250	RRS1	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
2	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
3	chr8:67384400-67395800	Weak transcription	Osteobl	bone
4	chr8:67384800-67395800	Weak transcription	Left Ventricle	heart
5	chr8:67387400-67406400	Weak transcription	Liver	Liver
6	chr8:67390000-67395600	Weak transcription	Psoas Muscle	Psoas
7	chr8:67390400-67395600	Weak transcription	NHEK	skin
8	chr8:67390400-67395800	Weak transcription	HMEC	breast
9	chr8:67391000-67395800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:67393600-67396000	Weak transcription	HSMM	muscle
11	chr8:67393800-67395600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:67394000-67395800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:67395000-67395600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:67395000-67396000	Enhancers	Primary B cells from cord blood	blood
15	chr8:67395000-67403800	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:67395200-67395600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:67395200-67395600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr8:67395200-67396000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:67395200-67396200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:67395200-67396200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:67395200-67396200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:67395200-67396200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr8:67395200-67396400	Enhancers	NHLF	lung
24	chr8:67395400-67395600	Enhancers	Placenta	Placenta
25	chr8:67395400-67396200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:67395400-67396200	Enhancers	NHDF-Ad	bronchial
27	chr8:67395400-67397600	Enhancers	GM12878-XiMat	blood

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