Variant report

Variant	rs10043066
Chromosome Location	chr5:112944083-112944084
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs10036298	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10036300	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs10038632	0.81[ASN][1000 genomes]
rs10039853	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs10040203	0.89[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10040430	0.86[EUR][1000 genomes]
rs10040516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10042563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10046057	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs10052077	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10053582	0.80[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10061552	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs10063008	0.82[ASN][1000 genomes]
rs10065616	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10071816	0.86[CHB][hapmap];0.91[MEX][hapmap]
rs10072547	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10076131	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10079603	0.83[JPT][hapmap]
rs10079895	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs10079973	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs10080096	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs1017209	0.90[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1035888	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10477495	0.89[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10477497	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs10477499	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10477500	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10478126	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10478127	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs10478129	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10478132	0.90[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1052896	0.89[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1080858	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11241210	0.86[EUR][1000 genomes]
rs11241211	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11241212	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11241214	0.93[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap]
rs11241215	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11742968	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11749931	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs11956399	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs12186798	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs12514105	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12516911	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12519315	0.85[AMR][1000 genomes]
rs12523145	0.86[CHB][hapmap];0.81[CHD][hapmap];0.84[MEX][hapmap]
rs12660001	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs13359625	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13359648	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13359652	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13359703	0.81[ASN][1000 genomes]
rs13362066	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1549628	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17135766	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17135776	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1820059	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1833680	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1833681	0.85[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1862315	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1970798	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2115216	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2162847	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2288449	0.93[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.81[ASN][1000 genomes]
rs2416319	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28848005	0.86[EUR][1000 genomes]
rs2900072	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3763138	0.90[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3763140	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3815911	0.91[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs3842917	1.00[JPT][hapmap]
rs3906538	0.84[EUR][1000 genomes]
rs3909887	0.84[EUR][1000 genomes]
rs3936061	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs4122547	0.83[EUR][1000 genomes]
rs4132093	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4334877	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4588592	0.82[ASN][1000 genomes]
rs4705552	0.87[EUR][1000 genomes]
rs4705555	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4705556	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4705557	0.93[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4705821	1.00[JPT][hapmap];0.91[MEX][hapmap]
rs4705823	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs4705825	0.90[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4705827	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4705828	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4705832	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4705833	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56030143	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56206672	0.81[ASN][1000 genomes]
rs57134656	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58391392	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59958489	0.89[AFR][1000 genomes]
rs60265545	0.84[EUR][1000 genomes]
rs6594721	0.89[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs6594729	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6594732	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6594733	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6594734	0.93[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap]
rs6594735	0.86[CHB][hapmap];0.81[CHD][hapmap];0.87[MEX][hapmap]
rs6594738	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67915940	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6865809	0.90[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6867502	0.81[ASN][1000 genomes]
rs6876448	0.86[EUR][1000 genomes]
rs6877432	0.93[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap]
rs6877466	0.81[ASN][1000 genomes]
rs6877834	0.81[ASN][1000 genomes]
rs6878282	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6878355	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6878900	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6880447	0.86[EUR][1000 genomes]
rs6883383	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[ASN][1000 genomes]
rs6883557	0.82[ASN][1000 genomes]
rs6884704	0.83[CEU][hapmap]
rs6886199	0.81[CHD][hapmap];0.87[MEX][hapmap]
rs6886628	0.93[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap]
rs6887816	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs6889574	0.93[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap]
rs6889783	0.84[EUR][1000 genomes]
rs6898425	0.81[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7349799	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs754573	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7701913	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7704170	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7705562	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs7706958	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs7707895	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7709110	0.91[JPT][hapmap];0.91[MEX][hapmap]
rs7711078	0.82[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7711211	0.86[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap]
rs7711367	0.93[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap]
rs7713038	0.89[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7713451	0.90[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7713846	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7715601	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7717644	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7722918	0.81[ASN][1000 genomes]
rs7723108	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7729306	0.90[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7730532	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7730557	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7730801	1.00[JPT][hapmap]
rs7730949	0.90[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7732310	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7737023	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs919304	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[ASN][1000 genomes]
rs929774	0.89[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9326893	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs9326897	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9654519	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9885245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10043066	YTHDC2	cis	cerebellum	SCAN
rs10043066	YTHDC2	cis	parietal	SCAN
rs10043066	YTHDC2	cis	multi-tissue	Pritchard
rs10043066	CDO1	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112943200-112944200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr5:112943600-112944200	Enhancers	Dnd41	blood
3	chr5:112943600-112944200	Enhancers	HSMMtube	muscle
4	chr5:112943600-112944200	Enhancers	NHDF-Ad	bronchial
5	chr5:112943600-112944400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:112943800-112944200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:112943800-112944200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:112943800-112944200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:112943800-112944200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:112943800-112944200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:112943800-112944200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:112943800-112944200	Enhancers	HUVEC	blood vessel
13	chr5:112943800-112944400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:112943800-112944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:112943800-112944400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:112943800-112944400	Enhancers	Left Ventricle	heart
17	chr5:112943800-112944400	Enhancers	HMEC	breast
18	chr5:112943800-112944400	Enhancers	K562	blood
19	chr5:112943800-112944400	Enhancers	Osteobl	bone
20	chr5:112944000-112944200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:112944000-112944200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:112944000-112944200	Enhancers	HSMM	muscle
23	chr5:112944000-112944400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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