Variant report

Variant	rs62368655
Chromosome Location	chr5:43771080-43771081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 189 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10035353	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10039531	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10042852	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10045029	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10050726	0.97[ASN][1000 genomes]
rs10054514	0.94[ASN][1000 genomes]
rs10055374	0.94[ASN][1000 genomes]
rs10059603	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10059613	0.93[ASN][1000 genomes]
rs10061100	0.80[ASN][1000 genomes]
rs10062920	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064711	0.93[ASN][1000 genomes]
rs10065107	0.92[ASN][1000 genomes]
rs10066806	0.91[ASN][1000 genomes]
rs10068765	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10069341	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10071683	0.93[ASN][1000 genomes]
rs10073552	0.94[ASN][1000 genomes]
rs10077102	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10077972	0.93[ASN][1000 genomes]
rs10079935	0.93[ASN][1000 genomes]
rs10155531	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10461745	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10461746	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10461747	1.00[ASN][1000 genomes]
rs10461748	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10462056	1.00[ASN][1000 genomes]
rs10462057	1.00[ASN][1000 genomes]
rs10472386	0.94[ASN][1000 genomes]
rs10472388	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737988	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12332274	0.93[ASN][1000 genomes]
rs12697461	0.92[ASN][1000 genomes]
rs12697462	0.92[ASN][1000 genomes]
rs13155241	0.81[ASN][1000 genomes]
rs13159427	0.80[ASN][1000 genomes]
rs13161165	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13163981	0.92[ASN][1000 genomes]
rs13165656	0.94[ASN][1000 genomes]
rs13166767	0.80[ASN][1000 genomes]
rs13173365	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13174983	0.81[ASN][1000 genomes]
rs13177579	0.93[ASN][1000 genomes]
rs13178040	1.00[ASN][1000 genomes]
rs13178059	0.92[ASN][1000 genomes]
rs13179099	0.89[ASN][1000 genomes]
rs13182721	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183124	0.90[ASN][1000 genomes]
rs13183238	0.90[ASN][1000 genomes]
rs13184624	0.80[ASN][1000 genomes]
rs13184706	0.80[ASN][1000 genomes]
rs13184712	1.00[ASN][1000 genomes]
rs13184793	0.80[ASN][1000 genomes]
rs13185888	0.80[ASN][1000 genomes]
rs13185925	0.80[ASN][1000 genomes]
rs13186729	0.80[ASN][1000 genomes]
rs13187446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187695	0.94[ASN][1000 genomes]
rs13188204	0.81[ASN][1000 genomes]
rs13189727	0.80[ASN][1000 genomes]
rs13357293	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13361045	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873471	0.90[ASN][1000 genomes]
rs16873502	0.94[ASN][1000 genomes]
rs2303732	0.94[ASN][1000 genomes]
rs2303733	0.93[ASN][1000 genomes]
rs28520030	0.94[ASN][1000 genomes]
rs34003086	0.90[ASN][1000 genomes]
rs34028586	1.00[ASN][1000 genomes]
rs34132518	0.93[ASN][1000 genomes]
rs34184759	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34250207	0.80[ASN][1000 genomes]
rs34289650	0.93[ASN][1000 genomes]
rs34315545	0.92[ASN][1000 genomes]
rs34325384	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34361740	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34378343	0.92[ASN][1000 genomes]
rs34420640	0.93[ASN][1000 genomes]
rs34435369	0.93[ASN][1000 genomes]
rs34571724	0.89[ASN][1000 genomes]
rs34748969	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34814715	0.99[ASN][1000 genomes]
rs34844158	0.94[ASN][1000 genomes]
rs34871596	0.89[ASN][1000 genomes]
rs34897533	0.96[ASN][1000 genomes]
rs34902970	0.93[ASN][1000 genomes]
rs34930147	0.81[ASN][1000 genomes]
rs35023467	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35047682	0.93[ASN][1000 genomes]
rs35072002	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35151191	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35228179	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35249562	1.00[ASN][1000 genomes]
rs35383935	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35388758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35429460	0.91[ASN][1000 genomes]
rs35442919	0.94[ASN][1000 genomes]
rs35555406	0.80[ASN][1000 genomes]
rs35580004	0.84[ASN][1000 genomes]
rs35592802	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35606071	0.90[ASN][1000 genomes]
rs35609488	0.91[ASN][1000 genomes]
rs35663171	0.89[ASN][1000 genomes]
rs35672591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35684072	0.80[ASN][1000 genomes]
rs35687864	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35696038	0.95[ASN][1000 genomes]
rs35697559	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35773128	0.92[ASN][1000 genomes]
rs35818459	0.97[ASN][1000 genomes]
rs35842681	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35867146	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35955731	0.94[ASN][1000 genomes]
rs3828696	0.94[ASN][1000 genomes]
rs3884574	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3884575	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4318792	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4380668	0.94[ASN][1000 genomes]
rs4382179	0.94[ASN][1000 genomes]
rs4403180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449542	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4476731	0.94[ASN][1000 genomes]
rs4484444	0.92[ASN][1000 genomes]
rs4493678	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62367658	0.89[ASN][1000 genomes]
rs62368574	0.90[ASN][1000 genomes]
rs62368575	0.90[ASN][1000 genomes]
rs62368577	0.93[ASN][1000 genomes]
rs62368578	0.93[ASN][1000 genomes]
rs62368581	0.94[ASN][1000 genomes]
rs62368584	0.94[ASN][1000 genomes]
rs62368594	0.83[EUR][1000 genomes]
rs62368632	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62368636	0.83[ASN][1000 genomes]
rs62368637	0.83[ASN][1000 genomes]
rs62368638	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62368640	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62368641	1.00[ASN][1000 genomes]
rs62369476	1.00[ASN][1000 genomes]
rs62369480	0.99[ASN][1000 genomes]
rs6863699	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6868008	0.90[ASN][1000 genomes]
rs6869748	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6871373	0.81[ASN][1000 genomes]
rs6872531	0.81[ASN][1000 genomes]
rs6872959	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6874033	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875118	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6875365	0.92[ASN][1000 genomes]
rs6875400	0.92[ASN][1000 genomes]
rs6878821	0.94[ASN][1000 genomes]
rs6882574	0.81[ASN][1000 genomes]
rs6892300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893250	0.80[EUR][1000 genomes]
rs6895383	0.94[ASN][1000 genomes]
rs6897045	0.95[ASN][1000 genomes]
rs6897559	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71629189	0.90[ASN][1000 genomes]
rs71629192	0.94[ASN][1000 genomes]
rs71629193	0.91[ASN][1000 genomes]
rs71631108	0.80[ASN][1000 genomes]
rs716960	0.94[ASN][1000 genomes]
rs72762386	0.80[ASN][1000 genomes]
rs73753626	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73753650	0.92[ASN][1000 genomes]
rs73753651	0.92[ASN][1000 genomes]
rs73753652	0.92[ASN][1000 genomes]
rs7708386	0.93[ASN][1000 genomes]
rs7711370	0.97[ASN][1000 genomes]
rs7713661	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7713856	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7715954	0.80[ASN][1000 genomes]
rs7717645	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7717974	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7721405	0.92[ASN][1000 genomes]
rs7723874	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7724013	0.81[ASN][1000 genomes]
rs7724195	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7725789	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7729400	0.80[ASN][1000 genomes]
rs7733259	0.94[ASN][1000 genomes]
rs9292896	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9784611	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9918185	0.95[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	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv3471542	chr5:43665651-43824536	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv3471543	chr5:43665767-43824443	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv537740	chr5:43729430-43782732	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv275326	chr5:43762162-43775532	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62368655	NNT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43769000-43774400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:43769000-43776000	Enhancers	Fetal Lung	lung
3	chr5:43769200-43772000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:43769400-43771200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:43769400-43771400	Enhancers	Fetal Stomach	stomach
6	chr5:43770000-43772800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:43770200-43771400	Enhancers	NHDF-Ad	bronchial
8	chr5:43770400-43772600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:43770600-43773200	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:43770600-43774600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:43770800-43772400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:43770800-43772600	Weak transcription	Osteobl	bone
13	chr5:43770800-43773200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:43771000-43771400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:43771000-43773200	Enhancers	NHEK	skin
16	chr5:43771000-43775800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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