Variant report

Variant	rs7835223
Chromosome Location	chr8:102830707-102830708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10091905	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10094868	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs10094894	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10113785	0.80[EUR][1000 genomes]
rs10216921	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10505012	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1073373	0.84[CEU][hapmap]
rs1074703	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1077500	0.88[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1077998	0.87[CEU][hapmap]
rs10808377	0.88[CEU][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10808378	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs10808379	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955274	0.83[CEU][hapmap]
rs10955275	0.81[EUR][1000 genomes]
rs1111884	0.88[CEU][hapmap]
rs1111886	0.84[CEU][hapmap]
rs1125334	0.84[CEU][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes]
rs1125335	0.82[AMR][1000 genomes]
rs11782123	0.83[CEU][hapmap]
rs12334693	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs12543380	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12545537	0.88[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs12550570	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1264930	0.84[CEU][hapmap]
rs1264933	0.96[CEU][hapmap]
rs12677525	0.84[CEU][hapmap]
rs13251735	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MEX][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13252722	0.81[AMR][1000 genomes]
rs13255004	0.89[EUR][1000 genomes]
rs13265954	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13268186	0.88[CEU][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13281055	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs13281871	0.80[EUR][1000 genomes]
rs13282456	0.80[EUR][1000 genomes]
rs1465167	0.88[CEU][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1557336	0.84[CEU][hapmap]
rs1573284	0.84[CEU][hapmap];0.91[MEX][hapmap]
rs17406994	0.84[CEU][hapmap]
rs1893366	0.96[CEU][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs2032121	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2154652	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2155938	0.84[CEU][hapmap]
rs2155942	0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2155943	0.85[EUR][1000 genomes]
rs2186392	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2186393	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2212701	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2226724	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs2226725	0.88[EUR][1000 genomes]
rs2387616	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2387617	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2387618	0.88[CEU][hapmap];0.91[MEX][hapmap]
rs2387619	0.88[CEU][hapmap]
rs2892324	0.81[CEU][hapmap]
rs4379418	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4493882	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4734040	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4734593	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs4734594	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs4734595	0.84[CEU][hapmap]
rs4734597	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6468792	0.84[CEU][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes]
rs6468793	0.84[CEU][hapmap]
rs6468794	0.84[CEU][hapmap]
rs6468795	0.84[CEU][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs6468796	0.84[CEU][hapmap]
rs6468798	0.84[CEU][hapmap]
rs6468799	0.84[CEU][hapmap]
rs6468801	0.88[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6984260	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs6987380	0.84[CEU][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes]
rs6988793	0.88[CEU][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs6993577	0.89[EUR][1000 genomes]
rs6997574	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7000357	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7001437	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7002547	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs7009385	0.88[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7011941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7012512	0.83[CEU][hapmap]
rs7013506	0.82[AMR][1000 genomes]
rs7015311	0.84[CEU][hapmap]
rs7017754	0.84[CEU][hapmap];0.82[CHD][hapmap]
rs7813132	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7827304	0.90[CHB][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7827691	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7827941	0.84[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7828175	0.84[CHB][hapmap]
rs7830291	0.88[CEU][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7835485	0.84[CEU][hapmap]
rs7838696	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7844599	0.83[CEU][hapmap]
rs8181022	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs8181025	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297313	0.96[CEU][hapmap]
rs9693504	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9693531	0.88[CEU][hapmap];0.81[EUR][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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7835223	FOXL1	trans	parietal	SCAN
rs7835223	C8orf56	cis	parietal	SCAN
rs7835223	NCALD	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102803600-102870600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:102828400-102832600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:102829000-102830800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:102829400-102830800	Enhancers	Aorta	Aorta
5	chr8:102829400-102830800	Enhancers	Fetal Muscle Leg	muscle
6	chr8:102829400-102830800	Enhancers	Ovary	ovary
7	chr8:102829600-102830800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:102829600-102830800	Enhancers	Brain Substantia Nigra	brain
9	chr8:102829600-102834600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:102829800-102830800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:102830000-102830800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:102830200-102830800	Enhancers	Brain Anterior Caudate	brain
13	chr8:102830200-102831600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:102830200-102834800	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:102830200-102835400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:102830200-102836400	Weak transcription	Brain Angular Gyrus	brain
17	chr8:102830400-102830800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:102830400-102832000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:102830400-102832000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:102830400-102832400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:102830600-102830800	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:102830600-102830800	Enhancers	Fetal Brain Male	brain
23	chr8:102830600-102830800	Enhancers	NHEK	skin
24	chr8:102830600-102835800	Weak transcription	Brain Inferior Temporal Lobe	brain

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