Variant report

Variant	rs4572801
Chromosome Location	chr3:51103133-51103134
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10865962	0.93[CEU][hapmap]
rs11130263	0.93[CEU][hapmap]
rs11130267	0.93[CEU][hapmap]
rs11130280	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11715556	0.94[CEU][hapmap]
rs11919932	0.93[CEU][hapmap]
rs12494165	0.93[CEU][hapmap]
rs13061003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13062018	0.93[CEU][hapmap]
rs13064199	0.93[CEU][hapmap]
rs13069365	0.81[CEU][hapmap]
rs13079136	0.94[CEU][hapmap]
rs13079565	0.94[CEU][hapmap]
rs13080170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13085827	0.93[CEU][hapmap]
rs13086922	0.93[CEU][hapmap]
rs13088434	0.94[CEU][hapmap]
rs13093289	0.93[CEU][hapmap]
rs13093798	0.93[CEU][hapmap]
rs13324500	0.94[CEU][hapmap]
rs1480362	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1480364	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2061950	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2170178	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2355702	0.94[CEU][hapmap]
rs2355943	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs28708817	0.84[ASN][1000 genomes]
rs28810453	0.83[ASN][1000 genomes]
rs2883809	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34628582	0.93[CEU][hapmap]
rs35356497	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3856932	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4132022	0.87[CEU][hapmap]
rs4244696	0.93[CEU][hapmap]
rs4244704	0.93[CEU][hapmap]
rs4263323	0.93[CEU][hapmap]
rs4267675	0.93[CEU][hapmap]
rs4286453	0.93[CEU][hapmap]
rs4309763	0.93[CEU][hapmap]
rs4356848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4364203	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4367100	0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs4373098	0.93[CEU][hapmap]
rs4377512	0.93[CEU][hapmap]
rs4434173	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4438692	0.93[CEU][hapmap]
rs4443210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4446244	0.93[CEU][hapmap]
rs4475072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[ASN][1000 genomes]
rs4478114	0.93[CEU][hapmap]
rs4488874	0.93[CEU][hapmap]
rs4505743	0.94[CEU][hapmap]
rs4511931	0.93[CEU][hapmap]
rs4511933	0.93[CEU][hapmap]
rs4530518	0.92[CEU][hapmap]
rs4530566	0.93[CEU][hapmap]
rs4555554	0.94[CEU][hapmap]
rs4560329	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4566574	0.94[CEU][hapmap]
rs4582086	0.93[CEU][hapmap]
rs4586853	0.93[CEU][hapmap]
rs4589968	0.94[CEU][hapmap]
rs4615113	0.93[CEU][hapmap]
rs4639007	0.80[EUR][1000 genomes]
rs4927960	0.93[CEU][hapmap]
rs4927969	0.88[ASN][1000 genomes]
rs4927970	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4927973	0.85[ASN][1000 genomes]
rs4927978	0.94[CEU][hapmap]
rs4927983	0.93[CEU][hapmap]
rs4974092	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4974094	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4974099	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6445501	0.87[ASN][1000 genomes]
rs6445549	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6445600	0.93[CEU][hapmap]
rs6445717	0.94[CEU][hapmap]
rs6445750	0.93[CEU][hapmap]
rs6445779	0.94[CEU][hapmap]
rs6445802	0.90[CEU][hapmap]
rs6445843	0.80[EUR][1000 genomes]
rs6446011	0.93[CEU][hapmap]
rs6446118	0.94[CEU][hapmap]
rs6446167	0.93[CEU][hapmap]
rs6446168	0.94[CEU][hapmap]
rs6446243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6446245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs6768601	0.93[CEU][hapmap]
rs6771085	0.93[CEU][hapmap]
rs6772197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6784455	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6787773	0.93[CEU][hapmap]
rs6787805	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs6793613	0.93[CEU][hapmap]
rs6793648	0.94[CEU][hapmap]
rs6795272	0.93[CEU][hapmap]
rs6795573	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6796642	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6799722	0.85[ASN][1000 genomes]
rs6800279	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6810241	0.93[CEU][hapmap]
rs7428086	0.93[CEU][hapmap]
rs7429035	0.93[CEU][hapmap]
rs7433217	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7611873	0.94[CEU][hapmap]
rs7614171	0.94[CEU][hapmap]
rs7614482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7614881	0.93[CEU][hapmap]
rs7615291	0.93[CEU][hapmap]
rs7618173	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7627266	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7629420	0.93[CEU][hapmap]
rs7629433	0.93[CEU][hapmap]
rs7634799	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7638732	0.93[CEU][hapmap]
rs7640263	0.93[CEU][hapmap]
rs7651141	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7652655	0.93[CEU][hapmap]
rs7652818	0.93[CEU][hapmap]
rs7653451	0.93[CEU][hapmap]
rs899750	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9682672	0.94[CEU][hapmap]
rs9713241	0.93[CEU][hapmap]
rs9758600	0.91[CEU][hapmap]
rs9815781	0.86[ASN][1000 genomes]
rs9823942	0.93[CEU][hapmap]
rs9828200	0.93[CEU][hapmap]
rs9837334	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9839484	0.91[ASN][1000 genomes]
rs9844581	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9847479	0.88[ASN][1000 genomes]
rs9850021	0.93[CEU][hapmap]
rs9856566	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9857727	0.94[CEU][hapmap]
rs9860403	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9865532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9868870	0.93[CEU][hapmap]
rs995543	0.95[CHB][hapmap];1.00[JPT][hapmap]

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	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4572801	HEMK1	cis	Lymphoblastoid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51103000-51103400	Enhancers	Liver	Liver

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