Variant report

Variant	rs11950903
Chromosome Location	chr5:145579458-145579459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145573844..145576885-chr5:145577748..145580180,3	K562	blood:
2	chr5:145577261..145580172-chr5:145580674..145584056,4	K562	blood:
3	chr5:145573844..145575489-chr5:145577748..145580152,2	K562	blood:

Variant related genes	Relation type
ENSG00000091009	Chromatin interaction

Extended variants
information (count: 303 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:298)

rs_ID	r²[population]
rs1006204	0.81[EUR][1000 genomes]
rs10515564	0.85[ASN][1000 genomes]
rs10515565	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10515566	0.83[ASN][1000 genomes]
rs10515567	0.81[ASN][1000 genomes]
rs1054020	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10988	0.81[ASN][1000 genomes]
rs1115080	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11167931	0.81[ASN][1000 genomes]
rs11167932	0.85[ASN][1000 genomes]
rs11167933	0.85[ASN][1000 genomes]
rs11167934	0.85[ASN][1000 genomes]
rs11167936	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11167937	0.81[ASN][1000 genomes]
rs11540214	0.85[ASN][1000 genomes]
rs11540215	0.98[ASN][1000 genomes]
rs11540217	0.85[ASN][1000 genomes]
rs11948016	0.98[ASN][1000 genomes]
rs11948180	0.85[ASN][1000 genomes]
rs11948314	0.85[ASN][1000 genomes]
rs11949351	0.98[ASN][1000 genomes]
rs11949703	0.85[ASN][1000 genomes]
rs11951553	0.85[ASN][1000 genomes]
rs11952228	0.82[ASN][1000 genomes]
rs11952445	0.81[ASN][1000 genomes]
rs11953090	0.81[ASN][1000 genomes]
rs11953506	0.84[ASN][1000 genomes]
rs11953517	0.83[ASN][1000 genomes]
rs11954083	0.85[ASN][1000 genomes]
rs11954297	0.81[ASN][1000 genomes]
rs11954750	0.85[ASN][1000 genomes]
rs11954870	0.85[ASN][1000 genomes]
rs11954923	0.85[ASN][1000 genomes]
rs11954977	0.85[ASN][1000 genomes]
rs11955206	0.81[ASN][1000 genomes]
rs11955443	0.82[EUR][1000 genomes]
rs11955557	0.97[ASN][1000 genomes]
rs11955635	0.84[ASN][1000 genomes]
rs11957830	0.98[ASN][1000 genomes]
rs11957888	0.98[ASN][1000 genomes]
rs11957998	0.98[ASN][1000 genomes]
rs11958136	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11958216	0.91[ASN][1000 genomes]
rs11959805	0.83[ASN][1000 genomes]
rs12152830	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12153109	0.83[ASN][1000 genomes]
rs12153238	0.85[ASN][1000 genomes]
rs12186358	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12187277	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12188066	0.81[EUR][1000 genomes]
rs12188772	0.98[ASN][1000 genomes]
rs12189077	0.81[ASN][1000 genomes]
rs12189385	0.81[ASN][1000 genomes]
rs13153675	0.85[ASN][1000 genomes]
rs13153891	0.87[ASN][1000 genomes]
rs13154219	0.81[ASN][1000 genomes]
rs13154547	0.85[ASN][1000 genomes]
rs13154735	0.98[ASN][1000 genomes]
rs13157279	0.98[ASN][1000 genomes]
rs13159380	0.98[ASN][1000 genomes]
rs13160605	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13160905	0.88[ASN][1000 genomes]
rs13161036	0.98[ASN][1000 genomes]
rs13161075	0.85[ASN][1000 genomes]
rs13161488	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13161659	0.83[ASN][1000 genomes]
rs13162175	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162640	0.84[ASN][1000 genomes]
rs13164882	0.85[ASN][1000 genomes]
rs13168967	0.86[ASN][1000 genomes]
rs13169370	0.87[ASN][1000 genomes]
rs13171596	0.98[ASN][1000 genomes]
rs13171939	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13172010	0.82[ASN][1000 genomes]
rs13173347	0.84[ASN][1000 genomes]
rs13175587	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13176784	0.98[ASN][1000 genomes]
rs13176915	0.98[ASN][1000 genomes]
rs13177015	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13178370	0.85[ASN][1000 genomes]
rs13178443	0.85[ASN][1000 genomes]
rs13178516	0.85[ASN][1000 genomes]
rs13178755	0.98[ASN][1000 genomes]
rs13178840	0.83[ASN][1000 genomes]
rs13179296	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13179517	0.98[ASN][1000 genomes]
rs13180113	0.85[ASN][1000 genomes]
rs13180255	0.81[ASN][1000 genomes]
rs13182567	0.85[ASN][1000 genomes]
rs13183541	0.87[ASN][1000 genomes]
rs13183976	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13184702	0.85[ASN][1000 genomes]
rs13185518	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13185586	0.98[ASN][1000 genomes]
rs13185805	0.85[ASN][1000 genomes]
rs13186694	0.85[ASN][1000 genomes]
rs13186701	0.98[ASN][1000 genomes]
rs1368345	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1395276	0.83[ASN][1000 genomes]
rs1395277	0.83[ASN][1000 genomes]
rs1506431	1.00[ASN][1000 genomes]
rs1567057	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17096590	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17104255	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17426845	0.81[ASN][1000 genomes]
rs17427286	0.83[ASN][1000 genomes]
rs17427691	0.85[ASN][1000 genomes]
rs17428100	0.85[ASN][1000 genomes]
rs17428465	0.85[ASN][1000 genomes]
rs17428570	0.85[ASN][1000 genomes]
rs17428647	0.98[ASN][1000 genomes]
rs17428724	0.98[ASN][1000 genomes]
rs17429180	0.86[ASN][1000 genomes]
rs17492851	0.83[ASN][1000 genomes]
rs17492893	0.83[ASN][1000 genomes]
rs17492950	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17493090	0.83[ASN][1000 genomes]
rs17493851	0.85[ASN][1000 genomes]
rs17500456	0.85[ASN][1000 genomes]
rs17500483	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17500504	0.85[ASN][1000 genomes]
rs17500927	0.98[ASN][1000 genomes]
rs17501177	0.86[ASN][1000 genomes]
rs17501601	0.83[ASN][1000 genomes]
rs17502157	0.81[ASN][1000 genomes]
rs17502233	0.80[ASN][1000 genomes]
rs17502345	0.80[ASN][1000 genomes]
rs17687490	0.80[ASN][1000 genomes]
rs1864948	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1876189	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1911112	0.85[ASN][1000 genomes]
rs1911113	0.85[ASN][1000 genomes]
rs2014462	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2014473	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2024056	0.81[EUR][1000 genomes]
rs2063002	0.98[ASN][1000 genomes]
rs2063005	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2279895	0.98[ASN][1000 genomes]
rs2292172	0.85[ASN][1000 genomes]
rs2292173	0.85[ASN][1000 genomes]
rs2304032	0.81[ASN][1000 genomes]
rs2304033	0.81[ASN][1000 genomes]
rs2400209	0.81[ASN][1000 genomes]
rs2895647	0.83[ASN][1000 genomes]
rs2895648	0.83[ASN][1000 genomes]
rs2895649	0.84[ASN][1000 genomes]
rs2895650	0.85[ASN][1000 genomes]
rs2939533	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2939535	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2939536	0.85[ASN][1000 genomes]
rs2939539	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2962502	0.81[ASN][1000 genomes]
rs2962503	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2962509	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2962510	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2962511	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2962515	0.98[ASN][1000 genomes]
rs2963914	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2963915	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2963918	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2963919	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2963920	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2963921	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2963922	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2963923	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2963924	0.85[ASN][1000 genomes]
rs2963926	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs33914983	0.98[ASN][1000 genomes]
rs34014355	0.98[ASN][1000 genomes]
rs34049009	0.85[ASN][1000 genomes]
rs34082425	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34141601	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34272709	0.85[ASN][1000 genomes]
rs34342344	0.85[ASN][1000 genomes]
rs34345997	0.85[ASN][1000 genomes]
rs34404385	0.85[ASN][1000 genomes]
rs34405762	0.98[ASN][1000 genomes]
rs34444119	0.86[ASN][1000 genomes]
rs34461274	0.84[ASN][1000 genomes]
rs34482773	0.85[ASN][1000 genomes]
rs34519824	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34529192	0.85[ASN][1000 genomes]
rs34533649	1.00[ASN][1000 genomes]
rs34581962	0.85[ASN][1000 genomes]
rs34672485	0.85[ASN][1000 genomes]
rs34683303	0.83[ASN][1000 genomes]
rs34774165	0.84[ASN][1000 genomes]
rs34775587	0.81[ASN][1000 genomes]
rs34794113	0.85[ASN][1000 genomes]
rs34794547	0.85[ASN][1000 genomes]
rs34812645	0.85[ASN][1000 genomes]
rs35048100	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35048686	0.98[ASN][1000 genomes]
rs35170264	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35238125	0.85[ASN][1000 genomes]
rs35262581	0.85[ASN][1000 genomes]
rs35369194	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35421100	0.98[ASN][1000 genomes]
rs35421875	0.83[ASN][1000 genomes]
rs35424128	0.82[ASN][1000 genomes]
rs35436549	0.85[ASN][1000 genomes]
rs35575652	0.81[ASN][1000 genomes]
rs35658996	0.85[ASN][1000 genomes]
rs35676277	0.81[ASN][1000 genomes]
rs35749752	0.85[ASN][1000 genomes]
rs35821418	0.85[ASN][1000 genomes]
rs35825928	0.83[ASN][1000 genomes]
rs35868039	0.85[ASN][1000 genomes]
rs35869904	0.85[ASN][1000 genomes]
rs35870798	0.81[ASN][1000 genomes]
rs35935643	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35947468	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36019024	0.88[ASN][1000 genomes]
rs36059140	0.85[ASN][1000 genomes]
rs36095232	0.85[ASN][1000 genomes]
rs36098188	0.85[ASN][1000 genomes]
rs36102990	0.85[ASN][1000 genomes]
rs36122632	0.85[ASN][1000 genomes]
rs3749994	0.83[ASN][1000 genomes]
rs3763373	0.85[ASN][1000 genomes]
rs3797628	0.85[ASN][1000 genomes]
rs3822623	0.85[ASN][1000 genomes]
rs3828935	0.85[ASN][1000 genomes]
rs3937558	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4413574	0.98[ASN][1000 genomes]
rs4443471	0.98[ASN][1000 genomes]
rs4705119	0.85[ASN][1000 genomes]
rs4705156	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4705179	0.81[ASN][1000 genomes]
rs4705398	0.85[ASN][1000 genomes]
rs4705438	0.85[ASN][1000 genomes]
rs4705445	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4913065	0.82[EUR][1000 genomes]
rs4913066	0.82[EUR][1000 genomes]
rs55665974	0.98[ASN][1000 genomes]
rs55681213	0.85[ASN][1000 genomes]
rs55799797	0.96[ASN][1000 genomes]
rs55812375	0.83[ASN][1000 genomes]
rs55909935	0.98[ASN][1000 genomes]
rs55937908	0.84[ASN][1000 genomes]
rs56240028	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278005	0.81[ASN][1000 genomes]
rs56338615	0.98[ASN][1000 genomes]
rs56410805	0.98[ASN][1000 genomes]
rs56413906	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58848845	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62372768	0.81[ASN][1000 genomes]
rs62372769	0.81[ASN][1000 genomes]
rs62372772	0.81[ASN][1000 genomes]
rs62372773	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62373771	0.83[ASN][1000 genomes]
rs62373785	0.85[ASN][1000 genomes]
rs62373786	0.85[ASN][1000 genomes]
rs62373789	0.85[ASN][1000 genomes]
rs62373798	0.85[ASN][1000 genomes]
rs62373799	0.84[ASN][1000 genomes]
rs62373801	0.85[ASN][1000 genomes]
rs62373802	0.85[ASN][1000 genomes]
rs62373809	0.98[ASN][1000 genomes]
rs62373810	0.98[ASN][1000 genomes]
rs62373811	0.98[ASN][1000 genomes]
rs62373812	0.98[ASN][1000 genomes]
rs62373813	0.97[ASN][1000 genomes]
rs62373819	0.98[ASN][1000 genomes]
rs62373823	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62373824	1.00[ASN][1000 genomes]
rs62373831	0.87[ASN][1000 genomes]
rs6580408	0.81[EUR][1000 genomes]
rs6580413	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66538287	0.85[ASN][1000 genomes]
rs67051761	0.85[ASN][1000 genomes]
rs67598659	0.85[ASN][1000 genomes]
rs67986716	0.85[ASN][1000 genomes]
rs6861532	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6862371	0.81[EUR][1000 genomes]
rs6867146	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6868728	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6870878	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6878005	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6881180	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6882517	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6884493	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6892928	0.81[EUR][1000 genomes]
rs6893994	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71594528	0.98[ASN][1000 genomes]
rs72822286	0.85[ASN][1000 genomes]
rs7443214	0.98[ASN][1000 genomes]
rs7702123	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7703269	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7711896	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722258	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7724811	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7727353	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7728381	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7728631	0.82[EUR][1000 genomes]
rs7729098	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9918101	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918130	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11950903	LARS	cis	Thyroid	GTEx
rs11950903	LARS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145563000-145582200	Weak transcription	Right Atrium	heart
2	chr5:145571000-145582400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:145577200-145582000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:145577800-145582400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:145578200-145582000	Weak transcription	Fetal Lung	lung
6	chr5:145579000-145581000	Enhancers	HepG2	liver
7	chr5:145579200-145580800	Enhancers	Fetal Stomach	stomach
8	chr5:145579400-145579800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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Variant report

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