Variant report

Variant	rs60654313
Chromosome Location	chr7:128157996-128157997
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128155554..128158728-chr7:128169520..128173367,3	K562	blood:

Variant related genes	Relation type
ENSG00000242588	Chromatin interaction
ENSG00000273270	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10223975	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227608	0.85[AFR][1000 genomes]
rs10231136	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233059	0.85[AFR][1000 genomes]
rs10250369	0.85[AFR][1000 genomes]
rs10261037	0.86[AFR][1000 genomes]
rs10269844	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10272840	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11766319	0.83[EUR][1000 genomes]
rs11767993	0.81[EUR][1000 genomes]
rs11770604	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11771884	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11772734	1.00[ASN][1000 genomes]
rs12530672	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532513	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12537208	0.89[AFR][1000 genomes]
rs12540658	1.00[ASN][1000 genomes]
rs13224451	1.00[ASN][1000 genomes]
rs13224784	1.00[ASN][1000 genomes]
rs13226592	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13233642	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13247746	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496126	0.89[AFR][1000 genomes]
rs28521260	0.85[AFR][1000 genomes]
rs34125589	0.82[EUR][1000 genomes]
rs4338038	1.00[ASN][1000 genomes]
rs55953818	0.89[AFR][1000 genomes]
rs57890423	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60029447	0.83[AFR][1000 genomes]
rs6467181	0.85[EUR][1000 genomes]
rs6467184	0.87[AFR][1000 genomes]
rs6958343	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6963982	0.81[EUR][1000 genomes]
rs6969343	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs71546775	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71546785	0.87[AFR][1000 genomes]
rs71546786	0.89[AFR][1000 genomes]
rs7776915	0.81[AFR][1000 genomes]
rs7778169	0.83[AFR][1000 genomes]
rs7786772	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7790839	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798172	0.89[AFR][1000 genomes]
rs7798776	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7801678	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690225	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9769753	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794896	chr7:128142170-128170380	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs60654313	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs60654313	METTL2B	cis	Artery Tibial	GTEx
rs60654313	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs60654313	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs60654313	RP11-274B21.10	cis	Thyroid	GTEx
rs60654313	CICP14	cis	Muscle Skeletal	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128117800-128162800	Weak transcription	Pancreas	Pancrea
2	chr7:128117800-128163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128142200-128163200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:128143800-128160000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:128153200-128163200	Weak transcription	K562	blood

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