Variant report

Variant	rs17502233
Chromosome Location	chr5:145665031-145665032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145661955..145664023-chr5:145664235..145668387,3	K562	blood:
2	chr5:145661955..145664023-chr5:145664235..145667190,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs10515565	0.97[ASN][1000 genomes]
rs10515566	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10515567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1115080	0.88[ASN][1000 genomes]
rs11167937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11540215	0.87[AMR][1000 genomes]
rs11948016	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11949351	0.87[AMR][1000 genomes]
rs11950903	0.80[ASN][1000 genomes]
rs11952445	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11953090	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11953506	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11954297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11955206	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11955557	0.82[AMR][1000 genomes]
rs11957830	0.86[AMR][1000 genomes]
rs11957888	0.87[AMR][1000 genomes]
rs11957907	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11957998	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11958136	0.99[ASN][1000 genomes]
rs11958216	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11958633	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12152830	0.89[ASN][1000 genomes]
rs12153364	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12187277	0.94[ASN][1000 genomes]
rs12188772	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12189077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13153891	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13154219	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13154735	0.87[AMR][1000 genomes]
rs13155119	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13157279	0.87[AMR][1000 genomes]
rs13157784	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13159380	0.87[AMR][1000 genomes]
rs13160605	0.88[ASN][1000 genomes]
rs13160905	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13161036	0.87[AMR][1000 genomes]
rs13162175	0.80[ASN][1000 genomes]
rs13164872	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13168967	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13169370	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13169390	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13171596	0.87[AMR][1000 genomes]
rs13171939	0.93[ASN][1000 genomes]
rs13173347	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13173462	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13176784	0.85[AMR][1000 genomes]
rs13176915	0.87[AMR][1000 genomes]
rs13177015	0.96[ASN][1000 genomes]
rs13178443	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13178755	0.87[AMR][1000 genomes]
rs13179296	0.80[ASN][1000 genomes]
rs13179517	0.87[AMR][1000 genomes]
rs13180255	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13182948	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13183541	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13183976	0.92[ASN][1000 genomes]
rs13185518	0.86[ASN][1000 genomes]
rs13185586	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13186701	0.87[AMR][1000 genomes]
rs1368345	0.89[ASN][1000 genomes]
rs1506431	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1567057	0.99[ASN][1000 genomes]
rs17096590	0.86[ASN][1000 genomes]
rs17428647	0.87[AMR][1000 genomes]
rs17428724	0.87[AMR][1000 genomes]
rs17429180	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17443315	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17500927	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17501177	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17501601	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17502157	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17502345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17687490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1864948	0.89[ASN][1000 genomes]
rs1876189	0.80[ASN][1000 genomes]
rs2014462	0.89[ASN][1000 genomes]
rs2014469	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2014473	0.89[ASN][1000 genomes]
rs2053045	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2063002	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2279895	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2304032	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2304033	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2939523	0.93[ASN][1000 genomes]
rs2962515	0.82[AMR][1000 genomes]
rs2963926	0.99[ASN][1000 genomes]
rs33914983	0.87[AMR][1000 genomes]
rs34014355	0.87[AMR][1000 genomes]
rs34082425	0.94[ASN][1000 genomes]
rs34141601	0.93[ASN][1000 genomes]
rs34405762	0.85[AMR][1000 genomes]
rs34444119	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34533649	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34775587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34812645	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34819107	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34993855	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35048686	0.87[AMR][1000 genomes]
rs35142541	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35170264	0.88[ASN][1000 genomes]
rs35369194	0.84[ASN][1000 genomes]
rs35421100	0.87[AMR][1000 genomes]
rs35575652	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35728795	0.83[ASN][1000 genomes]
rs35870798	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35935643	0.93[ASN][1000 genomes]
rs35947468	0.99[ASN][1000 genomes]
rs36019024	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3937558	0.89[ASN][1000 genomes]
rs4413574	0.87[AMR][1000 genomes]
rs4443471	0.87[AMR][1000 genomes]
rs4705156	0.97[ASN][1000 genomes]
rs4705157	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4705179	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705445	0.80[ASN][1000 genomes]
rs55665974	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55726586	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55799797	0.87[AMR][1000 genomes]
rs55909935	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55937908	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56240028	0.80[ASN][1000 genomes]
rs56338615	0.87[AMR][1000 genomes]
rs56410805	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56413906	0.86[ASN][1000 genomes]
rs58848845	0.96[ASN][1000 genomes]
rs62372766	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62372767	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62372768	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62372769	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62372772	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62372773	0.99[ASN][1000 genomes]
rs62373809	0.81[AMR][1000 genomes]
rs62373810	0.81[AMR][1000 genomes]
rs62373811	0.84[AMR][1000 genomes]
rs62373812	0.87[AMR][1000 genomes]
rs62373813	0.87[AMR][1000 genomes]
rs62373819	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62373824	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62373831	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580413	0.89[ASN][1000 genomes]
rs6867146	0.99[ASN][1000 genomes]
rs6868728	0.89[ASN][1000 genomes]
rs6870878	0.86[ASN][1000 genomes]
rs6878005	0.93[ASN][1000 genomes]
rs6881180	0.92[ASN][1000 genomes]
rs6882517	0.91[ASN][1000 genomes]
rs6884493	0.99[ASN][1000 genomes]
rs6893994	0.86[ASN][1000 genomes]
rs71594528	0.87[AMR][1000 genomes]
rs7443214	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7702123	0.97[ASN][1000 genomes]
rs7703269	0.97[ASN][1000 genomes]
rs7711896	0.80[ASN][1000 genomes]
rs7722258	0.99[ASN][1000 genomes]
rs7724811	0.99[ASN][1000 genomes]
rs7727353	0.88[ASN][1000 genomes]
rs7729098	0.99[ASN][1000 genomes]
rs9918101	0.80[ASN][1000 genomes]
rs9918130	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	nsv883011	chr5:145583623-145672431	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv883012	chr5:145589542-145672431	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv462478	chr5:145622472-145687295	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv599937	chr5:145622472-145687295	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17502233	LARS	cis	Esophagus Muscularis	GTEx
rs17502233	LARS	cis	Nerve Tibial	GTEx
rs17502233	LARS	Cis_1M	lymphoblastoid	RTeQTL
rs17502233	LARS	cis	Artery Tibial	GTEx
rs17502233	LARS	cis	Thyroid	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145597000-145668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:145611200-145670600	Weak transcription	Small Intestine	intestine
3	chr5:145623000-145667800	Strong transcription	Dnd41	blood
4	chr5:145624800-145665200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:145628200-145669000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:145630600-145667000	Strong transcription	Fetal Thymus	thymus
7	chr5:145630600-145667400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr5:145630800-145667200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:145630800-145668400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:145630800-145669600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:145631000-145668400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:145631200-145669000	Strong transcription	Liver	Liver
13	chr5:145633000-145669400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:145633800-145667200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:145641400-145668000	Weak transcription	Gastric	stomach
16	chr5:145641600-145670600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:145642400-145667400	Weak transcription	Brain Angular Gyrus	brain
18	chr5:145645600-145667200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:145647200-145666600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:145649200-145676200	Weak transcription	Fetal Brain Male	brain
21	chr5:145651200-145665800	Weak transcription	Fetal Kidney	kidney
22	chr5:145652200-145667800	Weak transcription	Colonic Mucosa	Colon
23	chr5:145652600-145667600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:145652800-145668000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:145652800-145672400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:145653000-145668600	Weak transcription	Brain Anterior Caudate	brain
27	chr5:145653200-145665600	Weak transcription	Brain Germinal Matrix	brain
28	chr5:145653200-145668000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:145653800-145665200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:145654200-145667800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:145655000-145667200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:145655200-145668200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:145655200-145669200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:145655600-145667600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:145656400-145669600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:145657800-145667400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:145657800-145676000	Weak transcription	Brain Substantia Nigra	brain
38	chr5:145658800-145666200	Weak transcription	K562	blood
39	chr5:145658800-145667400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:145659600-145667600	Strong transcription	Adipose Nuclei	Adipose
41	chr5:145659600-145668000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:145659600-145668000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:145659800-145669000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:145660000-145665800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:145660000-145668000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:145660000-145668200	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:145660200-145668400	Strong transcription	Placenta	Placenta
48	chr5:145660600-145667400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:145660800-145666200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:145660800-145667200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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