Variant report

Variant	rs61544090
Chromosome Location	chr7:128342209-128342210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 34 )

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs1003241	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10215560	0.86[EUR][1000 genomes]
rs10215566	0.86[EUR][1000 genomes]
rs10215947	0.86[EUR][1000 genomes]
rs10229874	0.85[EUR][1000 genomes]
rs10237278	0.85[EUR][1000 genomes]
rs10276417	0.85[ASN][1000 genomes]
rs10464537	0.83[EUR][1000 genomes]
rs10464538	0.83[EUR][1000 genomes]
rs10954193	0.85[EUR][1000 genomes]
rs10954194	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10954195	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1109552	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971248	0.84[EUR][1000 genomes]
rs11975784	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977129	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11979586	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12667202	0.81[EUR][1000 genomes]
rs12670258	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12670271	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12670432	0.81[EUR][1000 genomes]
rs12671767	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12672443	0.81[EUR][1000 genomes]
rs12672518	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12672529	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12672576	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12672608	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12673060	0.81[EUR][1000 genomes]
rs12673998	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12674125	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12706856	0.89[ASN][1000 genomes]
rs12706857	0.88[ASN][1000 genomes]
rs13438170	0.85[EUR][1000 genomes]
rs1450874	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169024	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17169357	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17169368	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17169609	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17533628	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1809082	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1839593	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1839594	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1970827	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1970828	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2044834	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2290229	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2402907	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2443110	0.80[EUR][1000 genomes]
rs3213979	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34614236	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35394926	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3857849	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3896308	0.87[EUR][1000 genomes]
rs3927852	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3931943	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4079001	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4079003	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4260830	0.83[EUR][1000 genomes]
rs4554406	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562239	0.81[EUR][1000 genomes]
rs4579449	0.81[EUR][1000 genomes]
rs4728128	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4728130	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731484	0.84[EUR][1000 genomes]
rs4731486	0.85[EUR][1000 genomes]
rs4731488	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4731492	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731493	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731494	0.82[ASN][1000 genomes]
rs4731496	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731497	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4731500	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731501	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731503	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731504	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731505	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731506	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55860694	0.82[EUR][1000 genomes]
rs55978216	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55982013	0.81[EUR][1000 genomes]
rs56030011	0.81[EUR][1000 genomes]
rs56052829	0.83[EUR][1000 genomes]
rs56111366	0.82[EUR][1000 genomes]
rs56189614	0.84[EUR][1000 genomes]
rs56278047	0.83[EUR][1000 genomes]
rs56329625	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333646	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56916616	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56946745	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57226192	0.83[EUR][1000 genomes]
rs57370656	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57653865	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57886720	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58123072	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58133562	0.81[EUR][1000 genomes]
rs59066415	0.81[EUR][1000 genomes]
rs59154282	0.84[EUR][1000 genomes]
rs59594227	0.81[EUR][1000 genomes]
rs60473286	0.83[EUR][1000 genomes]
rs60515997	0.81[EUR][1000 genomes]
rs60781570	0.82[EUR][1000 genomes]
rs61146845	0.81[EUR][1000 genomes]
rs61312980	0.81[EUR][1000 genomes]
rs61318942	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61738927	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62479751	0.84[EUR][1000 genomes]
rs62479756	0.83[EUR][1000 genomes]
rs62479757	0.83[EUR][1000 genomes]
rs62481868	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481869	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62481873	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62481883	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62481890	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481892	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481895	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481897	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481901	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481906	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62481907	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62481938	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62481939	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481940	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62483286	0.81[EUR][1000 genomes]
rs62483302	0.81[EUR][1000 genomes]
rs62483305	0.81[EUR][1000 genomes]
rs62483363	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62483364	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62483366	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62483368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467185	0.82[EUR][1000 genomes]
rs6467186	0.81[EUR][1000 genomes]
rs6467188	0.85[EUR][1000 genomes]
rs6467189	0.85[EUR][1000 genomes]
rs6467194	0.84[EUR][1000 genomes]
rs6467195	0.86[EUR][1000 genomes]
rs6467196	0.84[EUR][1000 genomes]
rs6467202	0.82[ASN][1000 genomes]
rs6467203	0.84[ASN][1000 genomes]
rs6467204	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6467206	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6467209	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6467210	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67602452	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6945126	0.85[ASN][1000 genomes]
rs6945532	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6954284	0.84[EUR][1000 genomes]
rs6954404	0.84[EUR][1000 genomes]
rs6958788	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969462	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6969554	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6973969	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6974153	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6978887	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72607753	0.81[AFR][1000 genomes]
rs73236020	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73236037	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7385007	0.83[EUR][1000 genomes]
rs7385683	0.81[EUR][1000 genomes]
rs7781695	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7786336	0.81[EUR][1000 genomes]
rs7792915	0.86[EUR][1000 genomes]
rs7793136	0.86[EUR][1000 genomes]
rs7797745	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9640850	0.80[EUR][1000 genomes]
rs9641823	0.81[EUR][1000 genomes]
rs9641824	0.80[EUR][1000 genomes]
rs9641826	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:34)

SNP	Gene	Cis/trans	Tissue	Source
rs61544090	RP11-274B21.1	cis	lung	GTEx
rs61544090	RP11-274B21.1	cis	Stomach	GTEx
rs61544090	RP11-274B21.4	cis	lung	GTEx
rs61544090	RP11-274B21.1	cis	Artery Tibial	GTEx
rs61544090	RP11-274B21.1	cis	Whole Blood	GTEx
rs61544090	RP11-274B21.10	cis	Whole Blood	GTEx
rs61544090	RP11-274B21.2	cis	Nerve Tibial	GTEx
rs61544090	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs61544090	RP11-274B21.1	cis	Thyroid	GTEx
rs61544090	RP11-274B21.4	cis	Muscle Skeletal	GTEx
rs61544090	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs61544090	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs61544090	RP11-274B21.1	cis	Artery Aorta	GTEx
rs61544090	RP11-274B21.4	cis	Esophagus Muscularis	GTEx
rs61544090	RP11-274B21.3	cis	Muscle Skeletal	GTEx
rs61544090	RP11-274B21.2	cis	Esophagus Muscularis	GTEx
rs61544090	RP11-274B21.4	cis	Artery Tibial	GTEx
rs61544090	RP11-274B21.2	cis	Artery Tibial	GTEx
rs61544090	RP11-274B21.4	cis	Thyroid	GTEx
rs61544090	RP11-274B21.1	cis	Esophagus Muscularis	GTEx
rs61544090	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs61544090	RP11-274B21.2	cis	Stomach	GTEx
rs61544090	RP11-274B21.9	cis	Esophagus Mucosa	GTEx
rs61544090	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs61544090	RP11-274B21.2	cis	Muscle Skeletal	GTEx
rs61544090	RP11-274B21.4	cis	Stomach	GTEx
rs61544090	RP11-274B21.1	cis	Muscle Skeletal	GTEx
rs61544090	RP11-274B21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs61544090	RP11-274B21.1	cis	Nerve Tibial	GTEx
rs61544090	RP11-274B21.2	cis	lung	GTEx
rs61544090	RP11-274B21.4	cis	Esophagus Mucosa	GTEx
rs61544090	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs61544090	RP11-274B21.4	cis	Skin Sun Exposed Lower leg	GTEx
rs61544090	RP11-274B21.4	cis	Whole Blood	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128338000-128346000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:128338600-128349000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:128339800-128343800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:128340000-128344200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:128340200-128344000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:128341200-128343800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:128341200-128344000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:128341200-128346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:128341800-128344800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:128341800-128346000	Weak transcription	HMEC	breast
12	chr7:128342000-128344600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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