Variant report

Variant	rs4698799
Chromosome Location	chr4:110794071-110794072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10022841	0.82[CEU][hapmap]
rs10516559	0.82[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes]
rs11098049	0.82[EUR][1000 genomes]
rs12054491	0.81[AMR][1000 genomes]
rs12498239	0.88[EUR][1000 genomes]
rs12508179	0.87[EUR][1000 genomes]
rs12513108	0.82[CEU][hapmap]
rs12644142	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs13115969	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs13125596	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13128244	0.82[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes]
rs13140289	0.82[CEU][hapmap]
rs13150454	0.82[CEU][hapmap]
rs1860130	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs2078040	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2347130	0.89[CEU][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2347131	0.94[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2347132	0.94[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2347133	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs34377477	0.81[AMR][1000 genomes]
rs35043368	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4353905	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs4422417	0.81[CEU][hapmap]
rs4610335	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs4698749	0.82[CEU][hapmap]
rs4698751	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4698795	0.82[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes]
rs55814498	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62324955	0.81[AMR][1000 genomes]
rs62327582	0.81[AMR][1000 genomes]
rs6814655	0.87[EUR][1000 genomes]
rs6814743	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs6816185	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs6841737	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs6858351	0.82[CEU][hapmap]
rs7657133	0.82[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4698799	GAR1	cis	parietal	SCAN
rs4698799	ENPEP	cis	cerebellum	SCAN
rs4698799	LRIT3	cis	cerebellum	SCAN
rs4698799	RRH	cis	parietal	SCAN
rs4698799	CYP2U1	cis	parietal	SCAN
rs4698799	GAR1	cis	cerebellum	SCAN
rs4698799	RRH	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110780400-110795000	Weak transcription	Esophagus	oesophagus
2	chr4:110786200-110796600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:110789600-110794800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:110789600-110795800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:110789800-110798400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:110791600-110795600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:110791800-110795400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:110791800-110797200	Weak transcription	Primary T cells from cord blood	blood
9	chr4:110791800-110799600	Weak transcription	Brain Angular Gyrus	brain
10	chr4:110793600-110794400	ZNF genes & repeats	Aorta	Aorta
11	chr4:110793600-110794600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:110793600-110795000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:110793800-110797600	Enhancers	Pancreas	Pancrea
14	chr4:110794000-110794600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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