Variant report

Variant	rs7547686
Chromosome Location	chr1:169171481-169171482
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:190)

rs_ID	r²[population]
rs10800406	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10800407	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10800410	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10800411	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10800413	0.85[EUR][1000 genomes]
rs10800415	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10800417	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10800418	0.85[EUR][1000 genomes]
rs10800419	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10800420	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1080266	0.87[ASN][1000 genomes]
rs1080267	0.99[ASN][1000 genomes]
rs10919076	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10919082	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10919083	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10919084	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10919086	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10919090	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10919094	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10919095	0.87[ASN][1000 genomes]
rs10919099	0.85[EUR][1000 genomes]
rs10919101	0.85[EUR][1000 genomes]
rs10919106	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10919107	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10919108	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11802117	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11802143	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11808938	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11809256	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11810319	0.85[EUR][1000 genomes]
rs12057856	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12059281	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12065884	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12066426	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12067018	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12067072	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12071277	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12072226	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12072953	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12075832	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12076469	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12080100	0.85[EUR][1000 genomes]
rs12081283	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12082618	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12082810	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12083287	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12084549	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12084957	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12086292	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12086983	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12089118	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12092528	0.80[AMR][1000 genomes]
rs12120493	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12121346	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12121395	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12123168	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12124144	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12124168	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12124744	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12125921	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12125985	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12126032	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12126266	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12127305	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12127613	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12129969	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12129979	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12130764	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12135928	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12140967	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12140995	0.85[EUR][1000 genomes]
rs12141151	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12141917	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12143131	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12143135	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12143965	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12144705	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12145939	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12145969	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12354315	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12562404	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12564596	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12568636	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12724093	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12724812	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12724863	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12734206	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12735503	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12736110	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12736723	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12739920	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12740040	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12741540	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12744184	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12744341	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12744655	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12745732	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12745997	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12747242	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12751062	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12755385	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12756799	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12758208	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1320965	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1320967	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1320968	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1358712	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1419323	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1419324	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1830492	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1830493	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1830495	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2012763	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2032044	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2050119	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2143287	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2179492	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2300159	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2420010	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2420012	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34250651	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35631014	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35774511	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36079696	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3737681	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3753297	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753300	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766053	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3766054	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3766055	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3766059	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3766060	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3766061	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3766062	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3766065	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3766066	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3766067	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3766069	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3766070	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3766071	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3766077	0.85[EUR][1000 genomes]
rs3820053	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3820055	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3820056	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4140540	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4385775	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4445529	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656181	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656653	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4656654	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4656655	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4656656	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4656659	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4656660	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4656661	0.85[EUR][1000 genomes]
rs4656662	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656665	0.85[EUR][1000 genomes]
rs4656666	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656667	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4656668	0.84[EUR][1000 genomes]
rs61806209	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61808871	0.84[EUR][1000 genomes]
rs61808872	0.83[EUR][1000 genomes]
rs6679084	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6688038	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6688139	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6695177	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6695252	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6701686	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6703463	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6704482	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67485965	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72700019	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs745922	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7518554	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7529937	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7541564	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7541675	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7541700	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7552484	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs909929	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs909930	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs909931	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs932394	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs932395	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs958581	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9887854	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9887857	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9887903	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9887916	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7547686	NME7	cis	Nerve Tibial	GTEx
rs7547686	NME7	Cis_1M	lymphoblastoid	RTeQTL
rs7547686	NME7	cis	Esophagus Muscularis	GTEx
rs7547686	NME7	cis	Thyroid	GTEx
rs7547686	NME7	cis	Artery Tibial	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169130400-169195200	Weak transcription	Pancreas	Pancrea
2	chr1:169163600-169184000	Weak transcription	Ovary	ovary
3	chr1:169167200-169176400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:169167800-169186800	Weak transcription	Primary T cells from cord blood	blood
5	chr1:169168000-169183800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:169169600-169172600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:169169600-169175600	Weak transcription	Brain Anterior Caudate	brain
8	chr1:169169800-169172800	Enhancers	NHEK	skin
9	chr1:169169800-169173200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:169170000-169172600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:169170000-169172800	Enhancers	HMEC	breast
12	chr1:169170000-169175000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:169170200-169172000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:169170200-169175000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:169171000-169171600	Enhancers	Fetal Intestine Small	intestine
16	chr1:169171000-169172200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:169171000-169173200	Weak transcription	NHLF	lung
18	chr1:169171400-169171600	Enhancers	Gastric	stomach

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