Variant report

Variant	rs17096590
Chromosome Location	chr5:145693202-145693203
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	chr5:145682961..145685958-chr5:145691254..145694928,4	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:177)

rs_ID	r²[population]
rs10515564	0.92[CHB][hapmap]
rs10515565	0.83[ASW][hapmap];0.96[CEU][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10515566	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10515567	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1054020	0.81[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap]
rs1115080	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11167932	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11167936	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11167937	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11948314	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs11950903	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11952445	0.87[ASN][1000 genomes]
rs11953090	0.84[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11953506	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11953517	0.84[CHB][hapmap];0.86[CHD][hapmap]
rs11954297	0.84[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11954750	0.83[CHB][hapmap]
rs11954977	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs11955206	0.87[ASN][1000 genomes]
rs11957907	0.97[ASN][1000 genomes]
rs11957998	0.84[CHB][hapmap]
rs11958136	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11958633	0.95[ASN][1000 genomes]
rs12152830	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12153109	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs12153364	0.97[ASN][1000 genomes]
rs12186358	0.81[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap]
rs12187277	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12189077	0.87[ASN][1000 genomes]
rs12189385	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs13153675	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs13153891	0.83[ASN][1000 genomes]
rs13154219	0.85[ASN][1000 genomes]
rs13155119	0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13157784	0.99[ASN][1000 genomes]
rs13160605	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13160905	0.82[ASN][1000 genomes]
rs13161075	0.80[JPT][hapmap]
rs13161488	0.87[EUR][1000 genomes]
rs13161659	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs13162175	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13164872	0.97[ASN][1000 genomes]
rs13168967	0.82[ASN][1000 genomes]
rs13169370	0.83[ASN][1000 genomes]
rs13169390	0.88[ASN][1000 genomes]
rs13171939	0.88[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13173347	0.82[ASN][1000 genomes]
rs13173462	0.81[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs13175587	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13177015	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13178370	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs13178443	0.83[ASN][1000 genomes]
rs13178516	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs13178840	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs13179296	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13180255	0.84[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13182567	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs13182948	0.99[ASN][1000 genomes]
rs13183541	0.83[ASN][1000 genomes]
rs13183976	0.88[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13185518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186694	0.83[CHB][hapmap]
rs1368345	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1395277	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs1567057	0.88[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17104362	0.83[LWK][hapmap];0.93[MKK][hapmap]
rs17104395	0.87[AFR][1000 genomes]
rs17427286	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs17427691	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs17428100	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs17428465	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs17428570	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs17428724	0.84[CHB][hapmap];0.83[CHD][hapmap];0.80[JPT][hapmap]
rs17429180	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17443315	0.97[ASN][1000 genomes]
rs17492851	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs17492893	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs17492950	0.81[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap]
rs17493090	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs17500483	0.83[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs17500504	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs17501177	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17501601	0.85[ASN][1000 genomes]
rs17502157	0.87[ASN][1000 genomes]
rs17502233	0.86[ASN][1000 genomes]
rs17502345	0.88[ASN][1000 genomes]
rs17687490	0.86[ASN][1000 genomes]
rs1864948	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1876189	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1911112	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs1911113	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs2014462	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2014469	0.97[ASN][1000 genomes]
rs2014473	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2063002	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs2063005	0.92[CHB][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap]
rs2116749	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2279895	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs2304032	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2304033	0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2400211	0.84[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap]
rs2895647	0.84[CHB][hapmap];0.86[CHD][hapmap]
rs2895648	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs2895649	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs2939523	0.84[CEU][hapmap];0.80[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2939533	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2939535	0.80[AMR][1000 genomes]
rs2939536	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs2962502	0.83[CHB][hapmap]
rs2962511	0.80[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs2963914	0.81[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap]
rs2963915	0.81[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs2963919	0.81[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs2963921	0.81[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs2963926	0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34082425	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34141601	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34444119	0.82[ASN][1000 genomes]
rs34519824	0.83[EUR][1000 genomes]
rs34775587	0.87[ASN][1000 genomes]
rs34812645	0.81[ASN][1000 genomes]
rs34819107	0.95[ASN][1000 genomes]
rs34993855	0.97[ASN][1000 genomes]
rs35170264	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35369194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35575652	0.87[ASN][1000 genomes]
rs35728795	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35870798	0.87[ASN][1000 genomes]
rs35935643	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35947468	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36019024	0.82[ASN][1000 genomes]
rs3749994	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs3763373	0.83[CHD][hapmap]
rs3797628	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs3822623	0.83[CHB][hapmap]
rs3828935	0.83[CHD][hapmap]
rs3937558	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4413574	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs4705156	0.96[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705157	0.87[ASN][1000 genomes]
rs4705179	0.84[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4705445	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55726586	0.94[ASN][1000 genomes]
rs55937908	0.82[ASN][1000 genomes]
rs56240028	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56413906	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58848845	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58922378	0.81[AFR][1000 genomes]
rs62372766	0.86[ASN][1000 genomes]
rs62372767	0.85[ASN][1000 genomes]
rs62372768	0.87[ASN][1000 genomes]
rs62372769	0.87[ASN][1000 genomes]
rs62372772	0.87[ASN][1000 genomes]
rs62372773	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62373823	0.82[EUR][1000 genomes]
rs62373831	0.81[ASN][1000 genomes]
rs6580413	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6861532	0.82[EUR][1000 genomes]
rs6867146	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6868728	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6870878	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878005	0.88[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6881180	0.88[ASW][hapmap];0.92[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6882517	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6884493	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6893994	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7443214	0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs7702123	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7703269	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7711896	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7722258	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7724811	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7727353	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7728381	0.81[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs7729098	0.88[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9918101	0.88[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9918130	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.87[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	nsv1026614	chr5:145688621-145733216	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17096590	LARS	cis	Thyroid	GTEx
rs17096590	PLAC8L1	cis	parietal	SCAN
rs17096590	LARS	cis	parietal	SCAN
rs17096590	LARS	cis	cerebellum	SCAN
rs17096590	LARS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145692200-145693400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:145692800-145699800	Weak transcription	Aorta	Aorta
3	chr5:145693000-145693400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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