Variant report

Variant	rs11955206
Chromosome Location	chr5:145654207-145654208
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	chr5:145647167..145649031-chr5:145653206..145654859,2	K562	blood:
2	chr5:145653852..145655797-chr5:145658433..145661229,2	K562	blood:

Extended variants
information (count: 166 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10515565	0.98[ASN][1000 genomes]
rs10515566	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10515567	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115080	0.89[ASN][1000 genomes]
rs11167937	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11540215	0.85[AMR][1000 genomes]
rs11948016	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11949351	0.85[AMR][1000 genomes]
rs11950903	0.81[ASN][1000 genomes]
rs11952445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11953090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11953506	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11954297	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957830	0.84[AMR][1000 genomes]
rs11957888	0.85[AMR][1000 genomes]
rs11957907	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11957998	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11958136	1.00[ASN][1000 genomes]
rs11958216	0.80[EUR][1000 genomes]
rs11958633	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12152830	0.90[ASN][1000 genomes]
rs12153364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12187277	0.95[ASN][1000 genomes]
rs12188772	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12189077	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13153891	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13154219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13154735	0.85[AMR][1000 genomes]
rs13155119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13157279	0.85[AMR][1000 genomes]
rs13157784	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13159380	0.85[AMR][1000 genomes]
rs13160605	0.89[ASN][1000 genomes]
rs13160905	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13161036	0.85[AMR][1000 genomes]
rs13162175	0.81[ASN][1000 genomes]
rs13164872	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13168967	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13169370	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13169390	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13171596	0.85[AMR][1000 genomes]
rs13171939	0.94[ASN][1000 genomes]
rs13173347	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13173462	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13176784	0.82[AMR][1000 genomes]
rs13176915	0.85[AMR][1000 genomes]
rs13177015	0.97[ASN][1000 genomes]
rs13178443	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13178755	0.85[AMR][1000 genomes]
rs13179296	0.81[ASN][1000 genomes]
rs13179517	0.85[AMR][1000 genomes]
rs13180255	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13182948	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13183541	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13183976	0.93[ASN][1000 genomes]
rs13185518	0.87[ASN][1000 genomes]
rs13185586	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13186701	0.85[AMR][1000 genomes]
rs1368345	0.90[ASN][1000 genomes]
rs1506431	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1567057	1.00[ASN][1000 genomes]
rs17096590	0.87[ASN][1000 genomes]
rs17428647	0.85[AMR][1000 genomes]
rs17428724	0.85[AMR][1000 genomes]
rs17429180	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17443315	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17500927	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17501177	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17501601	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17502157	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502233	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17502345	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17687490	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1864948	0.90[ASN][1000 genomes]
rs1876189	0.81[ASN][1000 genomes]
rs2014462	0.90[ASN][1000 genomes]
rs2014469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2014473	0.90[ASN][1000 genomes]
rs2053045	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[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];1.00[ASN][1000 genomes]
rs2304033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2939523	0.94[ASN][1000 genomes]
rs2962515	0.82[AMR][1000 genomes]
rs2963926	1.00[ASN][1000 genomes]
rs33914983	0.85[AMR][1000 genomes]
rs34014355	0.85[AMR][1000 genomes]
rs34082425	0.95[ASN][1000 genomes]
rs34141601	0.94[ASN][1000 genomes]
rs34405762	0.82[AMR][1000 genomes]
rs34444119	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34519824	0.80[ASN][1000 genomes]
rs34533649	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34775587	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34812645	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34819107	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34993855	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35048686	0.85[AMR][1000 genomes]
rs35142541	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35170264	0.89[ASN][1000 genomes]
rs35369194	0.85[ASN][1000 genomes]
rs35421100	0.85[AMR][1000 genomes]
rs35575652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35728795	0.84[ASN][1000 genomes]
rs35870798	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35935643	0.94[ASN][1000 genomes]
rs35947468	1.00[ASN][1000 genomes]
rs36019024	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3937558	0.90[ASN][1000 genomes]
rs4413574	0.85[AMR][1000 genomes]
rs4443471	0.85[AMR][1000 genomes]
rs4705156	0.98[ASN][1000 genomes]
rs4705157	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705179	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705445	0.81[ASN][1000 genomes]
rs55665974	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55726586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55799797	0.85[AMR][1000 genomes]
rs55909935	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55937908	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56240028	0.81[ASN][1000 genomes]
rs56338615	0.85[AMR][1000 genomes]
rs56410805	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56413906	0.87[ASN][1000 genomes]
rs58848845	0.97[ASN][1000 genomes]
rs62372766	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62372767	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62372768	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372773	1.00[ASN][1000 genomes]
rs62373811	0.81[AMR][1000 genomes]
rs62373812	0.85[AMR][1000 genomes]
rs62373813	0.85[AMR][1000 genomes]
rs62373819	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62373824	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62373831	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580413	0.90[ASN][1000 genomes]
rs6867146	1.00[ASN][1000 genomes]
rs6868728	0.90[ASN][1000 genomes]
rs6870878	0.87[ASN][1000 genomes]
rs6878005	0.94[ASN][1000 genomes]
rs6881180	0.93[ASN][1000 genomes]
rs6882517	0.92[ASN][1000 genomes]
rs6884493	1.00[ASN][1000 genomes]
rs6893994	0.87[ASN][1000 genomes]
rs71594528	0.85[AMR][1000 genomes]
rs7443214	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7702123	0.98[ASN][1000 genomes]
rs7703269	0.98[ASN][1000 genomes]
rs7711896	0.81[ASN][1000 genomes]
rs7722258	1.00[ASN][1000 genomes]
rs7724811	1.00[ASN][1000 genomes]
rs7727353	0.89[ASN][1000 genomes]
rs7729098	1.00[ASN][1000 genomes]
rs9918101	0.81[ASN][1000 genomes]
rs9918130	0.81[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
rs11955206	LARS	cis	Thyroid	GTEx
rs11955206	LARS	Cis_1M	lymphoblastoid	RTeQTL
rs11955206	LARS	cis	Nerve Tibial	GTEx
rs11955206	LARS	cis	Esophagus Muscularis	GTEx
rs11955206	LARS	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 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	chr5:145613400-145658800	Weak transcription	Pancreas	Pancrea
4	chr5:145621000-145664600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:145623000-145667800	Strong transcription	Dnd41	blood
6	chr5:145624800-145665200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:145628200-145669000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:145628600-145654400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:145630600-145667000	Strong transcription	Fetal Thymus	thymus
10	chr5:145630600-145667400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr5:145630800-145658800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:145630800-145667200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:145630800-145668400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:145630800-145669600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:145631000-145668400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:145631200-145654600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:145631200-145654600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:145631200-145657000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:145631200-145657800	Strong transcription	Adipose Nuclei	Adipose
20	chr5:145631200-145662600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:145631200-145669000	Strong transcription	Liver	Liver
22	chr5:145633000-145669400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:145633200-145655200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:145633800-145667200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:145636400-145654400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:145638400-145656200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:145639400-145662400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:145640000-145662000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:145641400-145663000	Weak transcription	Right Ventricle	heart
30	chr5:145641400-145668000	Weak transcription	Gastric	stomach
31	chr5:145641600-145658800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:145641600-145670600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:145641800-145658400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:145642400-145659800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:145642400-145667400	Weak transcription	Brain Angular Gyrus	brain
36	chr5:145642800-145662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:145642800-145662800	Weak transcription	Aorta	Aorta
38	chr5:145643600-145664400	Weak transcription	Lung	lung
39	chr5:145644000-145662800	Weak transcription	HSMMtube	muscle
40	chr5:145644400-145654400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:145644400-145658800	Strong transcription	K562	blood
42	chr5:145644800-145657600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr5:145645200-145663200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:145645200-145664800	Strong transcription	Fetal Intestine Large	intestine
45	chr5:145645400-145654400	Strong transcription	Primary T cells from cord blood	blood
46	chr5:145645600-145662400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:145645600-145667200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:145646800-145654400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:145647200-145666600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:145648400-145656400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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