Variant report

Variant	rs13113923
Chromosome Location	chr4:103840093-103840094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10004342	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10012413	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10015289	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10029073	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10031181	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10032234	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1080081	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11097796	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11097797	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11722779	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11731885	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11737544	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11938650	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12500379	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12501737	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12508069	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13117110	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13130741	0.80[EUR][1000 genomes]
rs13136616	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13144033	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13150426	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1383733	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17033381	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17215211	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2086499	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28367331	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28445579	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28636930	0.84[ASN][1000 genomes]
rs2866417	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28778380	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28811632	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28845922	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2903284	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34506429	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34725541	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3843441	0.89[ASN][1000 genomes]
rs3857198	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3857199	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3857200	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3886722	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3886723	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3960788	0.87[ASN][1000 genomes]
rs3974478	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3974481	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3974485	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3974599	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3974603	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3974604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3974605	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3974606	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3974608	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4235407	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4235409	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4334755	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4339216	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382039	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4446311	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455413	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4455415	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4525977	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4530634	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4533776	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4540048	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4596243	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4623004	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4642252	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4645215	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4698864	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4698867	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4698874	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4699032	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4699033	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4699034	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4699035	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4699037	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4699039	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4699040	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4699042	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4699044	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4699045	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4699046	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4699047	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4699049	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5028609	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6533030	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6533035	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6533037	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533046	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6533050	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6533051	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6533052	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6810668	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6815526	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6815540	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6818418	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6821173	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6821247	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6822658	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6823625	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6824070	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6828072	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6830193	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6830407	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6841492	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6842179	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6846762	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6847093	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6847191	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6852141	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6853193	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6856176	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs724446	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs724447	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7375679	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7659468	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7660298	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7663876	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7665655	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7672319	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7676736	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7676943	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677003	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7678030	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7681002	0.88[ASN][1000 genomes]
rs7681629	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7682755	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7685399	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7686957	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7687092	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7687707	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7688940	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7694724	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7695096	0.83[EUR][1000 genomes]
rs7697171	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7698608	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9307280	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9760180	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9917919	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9999303	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594957	chr4:103728010-103870091	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	esv1802717	chr4:103765156-103870091	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv879683	chr4:103785051-103916717	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv1849799	chr4:103787351-103881772	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv461598	chr4:103807720-103953389	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv594978	chr4:103807720-103953389	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv1821875	chr4:103810823-103895872	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv1798872	chr4:103810823-103898392	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv1804685	chr4:103811491-103881772	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv967780	chr4:103818716-103853306	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv10542	chr4:103819177-103871782	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv967781	chr4:103819396-103882480	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv1818411	chr4:103829793-103870091	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs13113923	CISD2	cis	multi-tissue	Pritchard
rs13113923	MANBA	cis	multi-tissue	Pritchard
rs13113923	KRT8P46	cis	lung	GTEx
rs13113923	CISD2	cis	Nerve Tibial	GTEx
rs13113923	CISD2	cis	Esophagus Muscularis	GTEx
rs13113923	LRRC37A15P	cis	lung	GTEx
rs13113923	CISD2	cis	Skin Sun Exposed Lower leg	GTEx
rs13113923	MANBA	Cis_1M	lymphoblastoid	RTeQTL
rs13113923	CISD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103836200-103842400	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:103839800-103849400	Weak transcription	Primary T cells from cord blood	blood

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