Variant report

Variant	rs62372767
Chromosome Location	chr5:145629887-145629888
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	chr5:145625443..145628007-chr5:145629715..145633107,5	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10515565	0.90[ASN][1000 genomes]
rs10515566	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10515567	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1115080	0.85[ASN][1000 genomes]
rs11167937	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11948016	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11952445	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11953090	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11953506	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11954297	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11955206	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11957907	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11957998	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11958136	0.92[ASN][1000 genomes]
rs11958216	0.81[EUR][1000 genomes]
rs11958633	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12152830	0.86[ASN][1000 genomes]
rs12153364	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12187277	0.87[ASN][1000 genomes]
rs12188772	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12189077	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13153891	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13154219	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13154735	0.80[EUR][1000 genomes]
rs13155119	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13157784	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13160605	0.85[ASN][1000 genomes]
rs13160905	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13164872	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13168967	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13169370	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13169390	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13171939	0.88[ASN][1000 genomes]
rs13173347	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13173462	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13177015	0.89[ASN][1000 genomes]
rs13178443	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13180255	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13182948	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13183541	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13183976	0.87[ASN][1000 genomes]
rs13185518	0.85[ASN][1000 genomes]
rs13185586	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1368345	0.86[ASN][1000 genomes]
rs1506431	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1567057	0.92[ASN][1000 genomes]
rs17096590	0.85[ASN][1000 genomes]
rs17429180	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17443315	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17500927	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17501177	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17501601	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17502157	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17502233	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17502345	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17687490	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1864948	0.86[ASN][1000 genomes]
rs2014462	0.86[ASN][1000 genomes]
rs2014469	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2014473	0.86[ASN][1000 genomes]
rs2053045	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2063002	0.86[EUR][1000 genomes]
rs2279895	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2304032	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2304033	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2939523	0.86[ASN][1000 genomes]
rs2963926	0.92[ASN][1000 genomes]
rs34082425	0.87[ASN][1000 genomes]
rs34141601	0.88[ASN][1000 genomes]
rs34444119	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34533649	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34775587	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34812645	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34819107	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34993855	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35142541	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35170264	0.83[ASN][1000 genomes]
rs35369194	0.83[ASN][1000 genomes]
rs35575652	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35728795	0.81[ASN][1000 genomes]
rs35870798	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35935643	0.88[ASN][1000 genomes]
rs35947468	0.92[ASN][1000 genomes]
rs36019024	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3937558	0.86[ASN][1000 genomes]
rs4705156	0.90[ASN][1000 genomes]
rs4705157	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705179	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55665974	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55726586	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55799797	0.80[EUR][1000 genomes]
rs55909935	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55937908	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56410805	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56413906	0.85[ASN][1000 genomes]
rs58848845	0.89[ASN][1000 genomes]
rs62372766	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62372768	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62372769	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62372772	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62372773	0.92[ASN][1000 genomes]
rs62373811	0.81[AMR][1000 genomes]
rs62373819	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62373824	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62373831	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6580413	0.86[ASN][1000 genomes]
rs6867146	0.92[ASN][1000 genomes]
rs6868728	0.86[ASN][1000 genomes]
rs6870878	0.85[ASN][1000 genomes]
rs6878005	0.86[ASN][1000 genomes]
rs6881180	0.87[ASN][1000 genomes]
rs6882517	0.86[ASN][1000 genomes]
rs6884493	0.92[ASN][1000 genomes]
rs6893994	0.85[ASN][1000 genomes]
rs7443214	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7702123	0.94[ASN][1000 genomes]
rs7703269	0.94[ASN][1000 genomes]
rs7722258	0.92[ASN][1000 genomes]
rs7724811	0.92[ASN][1000 genomes]
rs7727353	0.83[ASN][1000 genomes]
rs7729098	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
6	nsv462475	chr5:145583623-145642007	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv599935	chr5:145583623-145642007	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv883010	chr5:145583623-145651979	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	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
10	nsv523502	chr5:145588483-145639987	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	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
12	nsv883013	chr5:145595837-145651979	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv517251	chr5:145622472-145630737	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	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
15	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
rs62372767	LARS	Cis_1M	lymphoblastoid	RTeQTL
rs62372767	LARS	cis	Artery Tibial	GTEx
rs62372767	LARS	cis	Esophagus Muscularis	GTEx
rs62372767	LARS	cis	Nerve Tibial	GTEx
rs62372767	LARS	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145584800-145631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:145589000-145633200	Weak transcription	Brain Angular Gyrus	brain
3	chr5:145593400-145651000	Weak transcription	Stomach Mucosa	stomach
4	chr5:145597000-145668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:145597200-145640600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:145598000-145632200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:145598200-145640400	Weak transcription	Psoas Muscle	Psoas
8	chr5:145598400-145640400	Weak transcription	Fetal Heart	heart
9	chr5:145598800-145640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:145599800-145640200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:145601800-145648200	Weak transcription	Fetal Brain Male	brain
12	chr5:145602600-145647000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:145602600-145653800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:145606600-145630000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:145610400-145630800	Weak transcription	NHEK	skin
16	chr5:145610400-145639800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:145610600-145630800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:145611000-145640600	Weak transcription	Colonic Mucosa	Colon
19	chr5:145611200-145670600	Weak transcription	Small Intestine	intestine
20	chr5:145613200-145633200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:145613200-145634400	Weak transcription	Fetal Kidney	kidney
22	chr5:145613200-145641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:145613400-145631200	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:145613400-145640400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:145613400-145658800	Weak transcription	Pancreas	Pancrea
26	chr5:145614200-145631200	Weak transcription	NH-A	brain
27	chr5:145614200-145632000	Weak transcription	HSMM	muscle
28	chr5:145616200-145631200	Weak transcription	HMEC	breast
29	chr5:145617200-145631200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:145617400-145631200	Weak transcription	Brain Anterior Caudate	brain
31	chr5:145617400-145631200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:145617400-145648200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:145617600-145640600	Weak transcription	Right Ventricle	heart
34	chr5:145617600-145642600	Weak transcription	Spleen	Spleen
35	chr5:145617800-145631400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:145617800-145636600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr5:145617800-145639800	Weak transcription	HSMMtube	muscle
38	chr5:145617800-145640400	Weak transcription	Brain Substantia Nigra	brain
39	chr5:145618000-145639800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:145618000-145642400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:145618200-145631200	Weak transcription	HUVEC	blood vessel
42	chr5:145619000-145635200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:145619800-145631200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:145619800-145631200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:145619800-145631200	Weak transcription	Adipose Nuclei	Adipose
46	chr5:145619800-145638000	Weak transcription	Lung	lung
47	chr5:145620000-145639800	Weak transcription	Fetal Brain Female	brain
48	chr5:145620600-145631200	Weak transcription	Brain Germinal Matrix	brain
49	chr5:145621000-145631200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:145621000-145664600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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