Variant report

Variant	rs9993347
Chromosome Location	chr4:120258955-120258956
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs10000544	0.82[EUR][1000 genomes]
rs10003567	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10005237	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10005973	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10006192	0.85[EUR][1000 genomes]
rs10006877	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10008386	0.81[ASN][1000 genomes]
rs10008392	0.81[ASN][1000 genomes]
rs10012408	0.83[EUR][1000 genomes]
rs10012456	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10016241	0.83[EUR][1000 genomes]
rs10017271	0.83[ASN][1000 genomes]
rs10017371	0.88[ASN][1000 genomes]
rs10017543	0.81[ASN][1000 genomes]
rs10020034	0.87[ASN][1000 genomes]
rs1002152	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10022448	0.83[EUR][1000 genomes]
rs10023569	0.82[ASN][1000 genomes]
rs10024844	0.85[ASN][1000 genomes]
rs10024933	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10025054	0.85[ASN][1000 genomes]
rs10026436	0.88[ASN][1000 genomes]
rs10028669	0.88[ASN][1000 genomes]
rs10028773	0.83[EUR][1000 genomes]
rs10031718	0.86[ASN][1000 genomes]
rs10212714	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10212719	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10212775	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10212956	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10213158	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10213267	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1022145	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10518300	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518331	0.81[ASN][1000 genomes]
rs11098501	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11098502	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11098513	0.84[ASN][1000 genomes]
rs11098514	0.81[ASN][1000 genomes]
rs11722183	0.86[ASN][1000 genomes]
rs11722872	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11723581	0.82[ASN][1000 genomes]
rs11724409	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11728730	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11729991	0.88[ASN][1000 genomes]
rs11732087	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11732686	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12498994	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12502393	0.80[EUR][1000 genomes]
rs12502524	0.82[EUR][1000 genomes]
rs12503171	0.84[AMR][1000 genomes]
rs12504149	0.81[ASN][1000 genomes]
rs12505469	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12506148	0.81[ASN][1000 genomes]
rs12506445	0.80[EUR][1000 genomes]
rs12506487	0.82[EUR][1000 genomes]
rs12506610	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12507565	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12508173	0.81[ASN][1000 genomes]
rs12509621	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12510133	0.82[EUR][1000 genomes]
rs12510269	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12511640	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12512118	0.87[ASN][1000 genomes]
rs12512154	0.85[ASN][1000 genomes]
rs12513083	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12711071	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13104396	0.88[ASN][1000 genomes]
rs13108589	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13133522	0.81[ASN][1000 genomes]
rs13151285	0.84[ASN][1000 genomes]
rs1511017	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1511025	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1546502	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1546503	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1546504	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1546505	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1546506	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17049949	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17595608	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1814814	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1980024	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980025	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980026	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980027	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2002047	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2002049	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2017057	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2036856	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2036857	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2036858	0.84[ASN][1000 genomes]
rs2036860	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2136911	0.83[EUR][1000 genomes]
rs28363929	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28369503	0.87[EUR][1000 genomes]
rs28369518	0.81[EUR][1000 genomes]
rs28373117	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28396837	0.82[EUR][1000 genomes]
rs28403131	0.88[ASN][1000 genomes]
rs28437684	0.81[EUR][1000 genomes]
rs28502463	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28546691	0.83[EUR][1000 genomes]
rs28572238	0.82[ASN][1000 genomes]
rs28599836	0.86[EUR][1000 genomes]
rs28633994	0.90[ASN][1000 genomes]
rs28643450	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28652763	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28691602	0.80[EUR][1000 genomes]
rs28713555	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28714087	0.82[EUR][1000 genomes]
rs28714195	0.82[ASN][1000 genomes]
rs28726222	0.85[EUR][1000 genomes]
rs28857482	0.80[ASN][1000 genomes]
rs2964	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34425882	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34685788	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34818745	0.83[EUR][1000 genomes]
rs3749591	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3864141	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3890049	0.81[ASN][1000 genomes]
rs4107728	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4309825	0.84[ASN][1000 genomes]
rs4345162	0.84[ASN][1000 genomes]
rs4443261	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4472123	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4604043	0.84[ASN][1000 genomes]
rs55820750	0.82[EUR][1000 genomes]
rs59394118	0.88[ASN][1000 genomes]
rs66900435	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6815291	0.82[EUR][1000 genomes]
rs6838009	0.83[EUR][1000 genomes]
rs6838236	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6838617	0.87[ASN][1000 genomes]
rs6845714	0.81[ASN][1000 genomes]
rs6846442	0.81[ASN][1000 genomes]
rs6847075	0.87[ASN][1000 genomes]
rs6847248	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6848580	0.87[ASN][1000 genomes]
rs6857105	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs714899	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71591558	0.87[EUR][1000 genomes]
rs72676045	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72676046	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7437420	0.84[ASN][1000 genomes]
rs7671759	0.82[AMR][1000 genomes]
rs7671978	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7672129	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7672372	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7672493	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7672594	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7672778	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7673476	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7689729	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7690338	0.83[AMR][1000 genomes]
rs7695996	0.81[ASN][1000 genomes]
rs7696465	0.81[ASN][1000 genomes]
rs7696649	0.81[ASN][1000 genomes]
rs7696857	0.81[ASN][1000 genomes]
rs7696875	0.81[ASN][1000 genomes]
rs878372	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs878373	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs878376	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs907204	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs907205	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs938056	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9991166	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9991959	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9995045	0.81[ASN][1000 genomes]
rs9995234	0.81[ASN][1000 genomes]
rs9995716	0.83[EUR][1000 genomes]
rs9996494	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9996644	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9998953	0.87[ASN][1000 genomes]
rs9999724	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2538163	chr4:120252854-120388678	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv964091	chr4:120255342-120290951	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9993347	RP11-33B1.1	cis	Stomach	GTEx
rs9993347	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs9993347	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL
rs9993347	RP11-33B1.1	cis	Whole Blood	GTEx
rs9993347	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs9993347	RP11-384K6.6	cis	Whole Blood	GTEx
rs9993347	RP11-33B1.1	cis	lung	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120256800-120259000	Enhancers	Spleen	Spleen
2	chr4:120257600-120259000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:120258000-120259000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr4:120258200-120259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:120258200-120259200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:120258600-120259000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr4:120258800-120259000	Enhancers	Left Ventricle	heart

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