Variant report

Variant	rs4554147
Chromosome Location	chr4:118278299-118278300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10006701	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10025048	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10031675	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11098391	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11098392	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11098393	0.82[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11098394	0.93[ASN][1000 genomes]
rs11721879	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11722043	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11722980	0.81[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11723026	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11723116	0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11726324	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11727287	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11727350	0.85[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11729280	0.96[ASN][1000 genomes]
rs11729803	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11731251	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11737676	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12330989	0.93[ASN][1000 genomes]
rs12331875	0.93[ASN][1000 genomes]
rs12648770	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13129094	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13136435	0.91[ASN][1000 genomes]
rs13340324	0.96[ASN][1000 genomes]
rs17861177	0.85[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap]
rs17861767	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17861772	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17861773	0.95[ASN][1000 genomes]
rs17861774	0.90[ASN][1000 genomes]
rs17861779	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17861780	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17861786	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17861788	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17861793	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs17861794	0.85[CEU][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17861795	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17861796	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17861797	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17861798	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17861801	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17861803	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17861804	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17861808	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17861810	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17861819	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17861839	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17864921	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17865343	0.94[ASN][1000 genomes]
rs17865971	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17867050	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17869517	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28660474	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3925016	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4286610	0.93[ASN][1000 genomes]
rs4309912	0.93[ASN][1000 genomes]
rs4318720	0.85[JPT][hapmap]
rs4333258	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4389632	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4403116	0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4409028	0.96[ASN][1000 genomes]
rs4413474	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4413475	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4521417	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4576084	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4619964	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58529516	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60992137	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62313506	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62313508	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6834362	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6852158	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621811	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7678153	0.95[ASN][1000 genomes]
rs7683392	0.96[ASN][1000 genomes]
rs7691925	0.81[JPT][hapmap]
rs7696922	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7696950	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7697094	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9985925	0.94[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	nsv1000847	chr4:118186059-118285838	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1004858	chr4:118248984-118382051	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv427692	chr4:118262899-118437573	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4554147	ARSJ	cis	parietal	SCAN
rs4554147	UGT8	cis	cerebellum	SCAN
rs4554147	TNIP3	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118258800-118278600	Weak transcription	HMEC	breast
2	chr4:118277200-118278600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:118277800-118280000	Weak transcription	HSMMtube	muscle

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