Variant report

Variant	rs6594729
Chromosome Location	chr5:112866275-112866276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112850936..112852502-chr5:112866193..112868718,2	K562	blood:

Extended variants
information (count: 169 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10036298	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10036300	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10038632	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10039853	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10040203	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10040430	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10040516	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10042563	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10043066	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10046057	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10052077	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10053582	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10061552	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10063008	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10065616	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10071816	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10072547	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10076131	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10079603	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10079758	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10079895	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10079973	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10080096	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1017209	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1035888	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10477495	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10477497	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10477498	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10477499	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10477500	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10478126	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10478127	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10478129	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10478132	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1052896	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1080858	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11241210	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11241211	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11241212	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11241214	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11241215	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11742968	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11749931	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11750449	0.80[EUR][1000 genomes]
rs11750488	0.81[EUR][1000 genomes]
rs11956399	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12186798	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12514105	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12516911	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12652172	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12654189	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12660001	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13359625	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13359648	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13359652	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13359703	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13362066	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1549628	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17135766	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17135776	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1820059	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1833680	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1833681	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1862315	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1970798	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2115216	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2162842	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2162847	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2288449	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2416319	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28558374	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28848005	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2900072	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34514665	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34864074	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35162738	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35526509	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3763138	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3763140	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3815911	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3842917	0.85[EUR][1000 genomes]
rs3906538	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3909887	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3936061	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4122547	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4132093	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4132094	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4334877	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4588592	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705552	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4705553	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4705555	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705556	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705557	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4705823	0.87[EUR][1000 genomes]
rs4705825	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4705827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4705828	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4705832	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4705833	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56030143	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56206672	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57134656	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58044020	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58391392	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60265545	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60871281	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60914066	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6594718	0.85[EUR][1000 genomes]
rs6594719	0.85[EUR][1000 genomes]
rs6594720	0.83[EUR][1000 genomes]
rs6594721	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6594732	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594733	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594734	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6594738	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67915940	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6865809	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6867502	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6876448	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6877432	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6877466	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6877834	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6878282	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6878355	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6878900	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6880447	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6883383	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6883557	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6886628	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6887816	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6889501	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6889574	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6889783	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6898425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72805422	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7349799	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs754573	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7701913	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7704170	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7706215	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7706796	0.84[EUR][1000 genomes]
rs7706958	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7707895	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7711078	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7711211	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7711367	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7713038	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7713451	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7713846	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7715601	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7717644	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7722918	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7723108	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7729306	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7730532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7730557	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7730949	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7732310	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7737023	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs919304	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs929774	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9326893	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9326897	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9654519	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9885245	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv969205	chr5:112860167-112867961	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6594729	YTHDC2	cis	multi-tissue	Pritchard
rs6594729	YTHDC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112850400-112866600	Weak transcription	Esophagus	oesophagus
2	chr5:112850400-112866600	Weak transcription	Placenta	Placenta
3	chr5:112850400-112866800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:112850400-112866800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:112850400-112866800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:112850400-112866800	Weak transcription	Aorta	Aorta
7	chr5:112850400-112866800	Weak transcription	Lung	lung
8	chr5:112850400-112867000	Weak transcription	Pancreas	Pancrea
9	chr5:112850400-112879000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:112850400-112879200	Weak transcription	Gastric	stomach
11	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
12	chr5:112850600-112866600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:112850600-112866600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:112850600-112867600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:112850600-112868600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:112850600-112874800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:112850600-112879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
19	chr5:112851400-112866800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:112851400-112879000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:112851600-112866600	Weak transcription	Small Intestine	intestine
22	chr5:112851600-112866800	Weak transcription	NHLF	lung
23	chr5:112851600-112893200	Weak transcription	Fetal Brain Male	brain
24	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:112851800-112866800	Weak transcription	NH-A	brain
26	chr5:112852200-112866600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:112852400-112866600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:112852400-112878800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:112852400-112882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:112852400-112882200	Weak transcription	Fetal Heart	heart
31	chr5:112853200-112882400	Weak transcription	Brain Angular Gyrus	brain
32	chr5:112853600-112866600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:112854200-112866800	Weak transcription	Fetal Stomach	stomach
34	chr5:112855600-112866600	Weak transcription	HSMMtube	muscle
35	chr5:112856600-112866600	Weak transcription	Ovary	ovary
36	chr5:112856600-112867800	Weak transcription	HMEC	breast
37	chr5:112856800-112866600	Weak transcription	Brain Germinal Matrix	brain
38	chr5:112856800-112866600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:112856800-112866600	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:112856800-112866800	Weak transcription	Fetal Brain Female	brain
41	chr5:112856800-112866800	Weak transcription	Left Ventricle	heart
42	chr5:112857000-112866600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr5:112857000-112866600	Weak transcription	Liver	Liver
44	chr5:112857000-112866600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:112857000-112866600	Weak transcription	Fetal Thymus	thymus
46	chr5:112857000-112866800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:112857000-112866800	Weak transcription	Thymus	Thymus
48	chr5:112857000-112877600	Weak transcription	HepG2	liver
49	chr5:112858800-112876000	Weak transcription	Brain Anterior Caudate	brain
50	chr5:112858800-112882000	Weak transcription	Brain Substantia Nigra	brain

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