Variant report

Variant	rs6892928
Chromosome Location	chr5:145478009-145478010
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	chr5:145477324..145478947-chr5:145480856..145482673,2	K562	blood:

Extended variants
information (count: 223 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:222)

rs_ID	r²[population]
rs1006204	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10491259	1.00[ASN][1000 genomes]
rs10491260	1.00[ASN][1000 genomes]
rs10491261	1.00[ASN][1000 genomes]
rs10515564	0.92[ASN][1000 genomes]
rs1054020	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10988	0.96[ASN][1000 genomes]
rs11167931	0.96[ASN][1000 genomes]
rs11167932	0.92[ASN][1000 genomes]
rs11167933	0.92[ASN][1000 genomes]
rs11167934	0.92[ASN][1000 genomes]
rs11167936	0.81[EUR][1000 genomes]
rs11540214	0.92[ASN][1000 genomes]
rs11540217	0.92[ASN][1000 genomes]
rs11948180	0.92[ASN][1000 genomes]
rs11948314	0.92[ASN][1000 genomes]
rs11949352	0.98[ASN][1000 genomes]
rs11949703	0.92[ASN][1000 genomes]
rs11950903	0.81[EUR][1000 genomes]
rs11951553	0.92[ASN][1000 genomes]
rs11952228	0.91[ASN][1000 genomes]
rs11952281	0.80[ASN][1000 genomes]
rs11952697	1.00[ASN][1000 genomes]
rs11953517	0.92[ASN][1000 genomes]
rs11954083	0.92[ASN][1000 genomes]
rs11954750	0.92[ASN][1000 genomes]
rs11954870	0.92[ASN][1000 genomes]
rs11954923	0.92[ASN][1000 genomes]
rs11954977	0.92[ASN][1000 genomes]
rs11955443	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11955635	0.91[ASN][1000 genomes]
rs11956508	0.81[ASN][1000 genomes]
rs11958630	0.82[ASN][1000 genomes]
rs11959805	0.90[ASN][1000 genomes]
rs11960510	0.81[ASN][1000 genomes]
rs12153109	0.90[ASN][1000 genomes]
rs12153238	0.92[ASN][1000 genomes]
rs12186358	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12186642	1.00[ASN][1000 genomes]
rs12187128	1.00[ASN][1000 genomes]
rs12187649	1.00[ASN][1000 genomes]
rs12187913	1.00[ASN][1000 genomes]
rs12188066	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188581	1.00[ASN][1000 genomes]
rs12188941	0.91[ASN][1000 genomes]
rs12189385	0.96[ASN][1000 genomes]
rs12374457	0.85[EUR][1000 genomes]
rs12374538	0.85[EUR][1000 genomes]
rs13153675	0.92[ASN][1000 genomes]
rs13154547	0.92[ASN][1000 genomes]
rs13161075	0.92[ASN][1000 genomes]
rs13161488	0.81[EUR][1000 genomes]
rs13161659	0.94[ASN][1000 genomes]
rs13162175	0.81[EUR][1000 genomes]
rs13162233	0.98[ASN][1000 genomes]
rs13162640	0.91[ASN][1000 genomes]
rs13164882	0.92[ASN][1000 genomes]
rs13171828	0.88[ASN][1000 genomes]
rs13172010	0.86[ASN][1000 genomes]
rs13174055	0.98[ASN][1000 genomes]
rs13175587	0.81[EUR][1000 genomes]
rs13175806	0.98[ASN][1000 genomes]
rs13178370	0.92[ASN][1000 genomes]
rs13178516	0.92[ASN][1000 genomes]
rs13178840	0.94[ASN][1000 genomes]
rs13179296	0.81[EUR][1000 genomes]
rs13180113	0.92[ASN][1000 genomes]
rs13181074	0.98[ASN][1000 genomes]
rs13182302	1.00[ASN][1000 genomes]
rs13182567	0.92[ASN][1000 genomes]
rs13182838	0.96[ASN][1000 genomes]
rs13184702	0.92[ASN][1000 genomes]
rs13185805	0.91[ASN][1000 genomes]
rs13186694	0.92[ASN][1000 genomes]
rs1395276	0.94[ASN][1000 genomes]
rs1395277	0.94[ASN][1000 genomes]
rs17104255	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17426845	0.96[ASN][1000 genomes]
rs17427286	0.94[ASN][1000 genomes]
rs17427691	0.92[ASN][1000 genomes]
rs17428100	0.92[ASN][1000 genomes]
rs17428465	0.92[ASN][1000 genomes]
rs17428570	0.92[ASN][1000 genomes]
rs17492851	0.94[ASN][1000 genomes]
rs17492893	0.94[ASN][1000 genomes]
rs17492950	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17493090	0.94[ASN][1000 genomes]
rs17493851	0.92[ASN][1000 genomes]
rs17500456	0.92[ASN][1000 genomes]
rs17500483	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17500504	0.92[ASN][1000 genomes]
rs17796870	0.81[ASN][1000 genomes]
rs17796876	0.81[ASN][1000 genomes]
rs1876189	0.81[EUR][1000 genomes]
rs1911112	0.92[ASN][1000 genomes]
rs1911113	0.92[ASN][1000 genomes]
rs1985600	0.81[ASN][1000 genomes]
rs2015248	0.98[ASN][1000 genomes]
rs2024055	0.81[ASN][1000 genomes]
rs2024056	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2024057	0.81[ASN][1000 genomes]
rs2063005	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2292172	0.92[ASN][1000 genomes]
rs2292173	0.92[ASN][1000 genomes]
rs2302036	0.81[ASN][1000 genomes]
rs2400209	0.96[ASN][1000 genomes]
rs2895647	0.94[ASN][1000 genomes]
rs2895648	0.94[ASN][1000 genomes]
rs2895649	0.93[ASN][1000 genomes]
rs2895650	0.92[ASN][1000 genomes]
rs2939533	0.82[EUR][1000 genomes]
rs2939535	0.89[EUR][1000 genomes]
rs2939536	0.92[ASN][1000 genomes]
rs2939539	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2962502	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2962503	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2962509	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2962510	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2962511	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2963914	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2963915	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2963918	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2963919	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2963920	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2963921	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2963922	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2963923	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2963924	0.92[ASN][1000 genomes]
rs34049009	0.92[ASN][1000 genomes]
rs34071526	0.81[ASN][1000 genomes]
rs34078408	0.81[ASN][1000 genomes]
rs34160255	0.98[ASN][1000 genomes]
rs34170515	1.00[ASN][1000 genomes]
rs34272709	0.92[ASN][1000 genomes]
rs34342344	0.92[ASN][1000 genomes]
rs34345997	0.92[ASN][1000 genomes]
rs34404385	0.92[ASN][1000 genomes]
rs34461274	0.91[ASN][1000 genomes]
rs34482773	0.92[ASN][1000 genomes]
rs34516108	0.98[ASN][1000 genomes]
rs34529192	0.92[ASN][1000 genomes]
rs34530601	0.81[ASN][1000 genomes]
rs34581962	0.92[ASN][1000 genomes]
rs34601905	1.00[ASN][1000 genomes]
rs34672485	0.92[ASN][1000 genomes]
rs34683303	0.94[ASN][1000 genomes]
rs34774165	0.91[ASN][1000 genomes]
rs34794113	0.92[ASN][1000 genomes]
rs34794547	0.92[ASN][1000 genomes]
rs34818573	0.81[ASN][1000 genomes]
rs34818690	0.81[ASN][1000 genomes]
rs35048100	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35150639	0.81[ASN][1000 genomes]
rs35185759	0.84[ASN][1000 genomes]
rs35228139	0.81[ASN][1000 genomes]
rs35238125	0.92[ASN][1000 genomes]
rs35262581	0.92[ASN][1000 genomes]
rs35291206	0.85[EUR][1000 genomes]
rs35421875	0.89[ASN][1000 genomes]
rs35424128	0.90[ASN][1000 genomes]
rs35436549	0.92[ASN][1000 genomes]
rs35652702	1.00[ASN][1000 genomes]
rs35658996	0.92[ASN][1000 genomes]
rs35676277	0.96[ASN][1000 genomes]
rs35749752	0.92[ASN][1000 genomes]
rs35801832	1.00[ASN][1000 genomes]
rs35821418	0.92[ASN][1000 genomes]
rs35825928	0.94[ASN][1000 genomes]
rs35868039	0.92[ASN][1000 genomes]
rs35869904	0.92[ASN][1000 genomes]
rs36059140	0.92[ASN][1000 genomes]
rs36095232	0.92[ASN][1000 genomes]
rs36098188	0.92[ASN][1000 genomes]
rs36102990	0.92[ASN][1000 genomes]
rs36122632	0.92[ASN][1000 genomes]
rs3749994	0.94[ASN][1000 genomes]
rs3763373	0.92[ASN][1000 genomes]
rs3797628	0.92[ASN][1000 genomes]
rs3822623	0.92[ASN][1000 genomes]
rs3828935	0.92[ASN][1000 genomes]
rs41338847	1.00[ASN][1000 genomes]
rs4705119	0.92[ASN][1000 genomes]
rs4705398	0.92[ASN][1000 genomes]
rs4705438	0.92[ASN][1000 genomes]
rs4705445	0.81[EUR][1000 genomes]
rs4913062	0.81[ASN][1000 genomes]
rs4913063	0.96[ASN][1000 genomes]
rs4913064	0.97[ASN][1000 genomes]
rs4913065	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4913066	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4913067	0.98[ASN][1000 genomes]
rs55681213	0.92[ASN][1000 genomes]
rs55681251	0.92[ASN][1000 genomes]
rs55782203	1.00[ASN][1000 genomes]
rs55812375	0.94[ASN][1000 genomes]
rs56240028	0.81[EUR][1000 genomes]
rs56278005	0.96[ASN][1000 genomes]
rs56338521	0.85[EUR][1000 genomes]
rs62373771	0.87[ASN][1000 genomes]
rs62373785	0.92[ASN][1000 genomes]
rs62373786	0.92[ASN][1000 genomes]
rs62373789	0.92[ASN][1000 genomes]
rs62373798	0.92[ASN][1000 genomes]
rs62373799	0.90[ASN][1000 genomes]
rs62373801	0.92[ASN][1000 genomes]
rs62373802	0.92[ASN][1000 genomes]
rs6580408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66538287	0.92[ASN][1000 genomes]
rs67051761	0.92[ASN][1000 genomes]
rs67598659	0.92[ASN][1000 genomes]
rs67829086	0.98[ASN][1000 genomes]
rs67986716	0.91[ASN][1000 genomes]
rs6862371	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877277	1.00[ASN][1000 genomes]
rs72820460	0.87[ASN][1000 genomes]
rs72822286	0.92[ASN][1000 genomes]
rs7711896	0.81[EUR][1000 genomes]
rs7725078	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7728381	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7728631	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9918101	0.81[EUR][1000 genomes]
rs9918130	0.81[EUR][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	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6892928	LARS	Cis_1M	lymphoblastoid	RTeQTL
rs6892928	LARS	cis	Thyroid	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145459800-145492000	Weak transcription	HSMMtube	muscle
2	chr5:145466600-145484200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:145469600-145492000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:145470200-145483800	Weak transcription	HSMM	muscle
5	chr5:145471800-145492600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:145472200-145483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:145473600-145491400	Weak transcription	Fetal Brain Female	brain
8	chr5:145474000-145491600	Weak transcription	Primary B cells from cord blood	blood
9	chr5:145474200-145491000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:145474400-145492200	Weak transcription	Brain Angular Gyrus	brain
11	chr5:145474600-145491000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:145475000-145495800	Weak transcription	Brain Substantia Nigra	brain
13	chr5:145475200-145491000	Weak transcription	A549	lung
14	chr5:145475200-145491800	Weak transcription	Primary T cells from cord blood	blood
15	chr5:145475400-145479800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:145476400-145480800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:145477400-145478400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr5:145477800-145478400	Enhancers	Brain Anterior Caudate	brain
19	chr5:145478000-145478200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:145478000-145478400	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:145478000-145478400	Enhancers	Brain Hippocampus Middle	brain
22	chr5:145478000-145487800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:145478000-145492600	Weak transcription	Fetal Stomach	stomach

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