Variant report

Variant	rs2115216
Chromosome Location	chr5:112949202-112949203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10036298	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10038632	0.80[ASN][1000 genomes]
rs10040203	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10040430	0.85[EUR][1000 genomes]
rs10040516	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10042563	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10043066	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10046057	0.85[EUR][1000 genomes]
rs10052077	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053582	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10061552	0.80[ASN][1000 genomes]
rs10063008	0.81[ASN][1000 genomes]
rs10065616	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072547	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10076131	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10079603	0.80[ASN][1000 genomes]
rs1017209	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1035888	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10477495	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10477499	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10477500	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10478126	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10478129	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10478132	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1052896	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1080858	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241210	0.85[EUR][1000 genomes]
rs11241211	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11241212	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11241214	0.80[ASN][1000 genomes]
rs11241215	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11742968	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12514105	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12516911	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12519315	0.86[AMR][1000 genomes]
rs13359625	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13359648	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13359652	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13359703	0.80[ASN][1000 genomes]
rs13362066	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1549628	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17135766	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17135776	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1820059	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1833680	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1833681	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1862315	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1970798	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2162847	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288449	0.82[ASN][1000 genomes]
rs2416319	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28848005	0.85[EUR][1000 genomes]
rs2900072	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3763138	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3763140	0.81[ASN][1000 genomes]
rs3815911	0.81[ASN][1000 genomes]
rs3906538	0.83[EUR][1000 genomes]
rs3909887	0.83[EUR][1000 genomes]
rs4122547	0.81[EUR][1000 genomes]
rs4132093	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4588592	0.81[ASN][1000 genomes]
rs4705552	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4705555	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4705556	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4705557	0.82[ASN][1000 genomes]
rs4705825	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4705827	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4705828	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4705832	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4705833	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56030143	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56206672	0.82[ASN][1000 genomes]
rs57134656	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58391392	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60265545	0.83[EUR][1000 genomes]
rs6594721	0.85[EUR][1000 genomes]
rs6594729	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6594732	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6594733	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6594738	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67915940	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6865809	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6867502	0.80[ASN][1000 genomes]
rs6876448	0.84[EUR][1000 genomes]
rs6877466	0.80[ASN][1000 genomes]
rs6877834	0.80[ASN][1000 genomes]
rs6878282	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6878355	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6878900	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6880447	0.85[EUR][1000 genomes]
rs6883383	0.81[ASN][1000 genomes]
rs6883557	0.81[ASN][1000 genomes]
rs6886628	0.80[ASN][1000 genomes]
rs6887816	0.85[EUR][1000 genomes]
rs6889783	0.83[EUR][1000 genomes]
rs6898425	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs754573	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7701913	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7704170	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7707895	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7711078	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7713038	0.81[EUR][1000 genomes]
rs7713451	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7713846	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7715601	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7717644	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7722918	0.80[ASN][1000 genomes]
rs7723108	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7729306	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7730532	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7730557	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7730949	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7732310	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs919304	0.81[ASN][1000 genomes]
rs929774	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9326893	0.80[ASN][1000 genomes]
rs9326897	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9654519	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9885245	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	nsv4961	chr5:112945908-112991152	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882725	chr5:112947050-112989901	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2115216	YTHDC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112944400-112950000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:112944400-112950000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:112948200-112951000	Weak transcription	Ovary	ovary
4	chr5:112948200-112952800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:112948400-112949400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:112948400-112949400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:112948400-112949600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:112948400-112949600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:112948400-112949600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:112948600-112949800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:112948800-112952800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:112949000-112950200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:112949200-112950400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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