Variant report

Variant	rs12522478
Chromosome Location	chr5:145385898-145385899
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10463379	0.96[ASN][1000 genomes]
rs10463381	0.81[ASN][1000 genomes]
rs10463382	0.90[ASN][1000 genomes]
rs1056149	0.83[ASN][1000 genomes]
rs11167924	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11167925	0.92[ASN][1000 genomes]
rs11167926	0.92[ASN][1000 genomes]
rs11167927	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11167928	0.90[ASN][1000 genomes]
rs11167929	0.90[ASN][1000 genomes]
rs1158395	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1160791	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738320	0.90[ASN][1000 genomes]
rs11738329	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11739231	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11739577	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11740034	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11740294	0.96[ASN][1000 genomes]
rs11740577	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11740646	0.89[ASN][1000 genomes]
rs11741665	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11741958	0.83[ASN][1000 genomes]
rs11742574	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11742599	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11742606	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11743632	0.92[ASN][1000 genomes]
rs11743638	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11744031	0.92[ASN][1000 genomes]
rs11744037	0.92[ASN][1000 genomes]
rs11746712	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11746953	0.84[ASN][1000 genomes]
rs11747075	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11747459	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11748213	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11748238	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11749557	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11749886	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11750281	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11949400	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11950760	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12187381	0.92[ASN][1000 genomes]
rs12188401	0.90[ASN][1000 genomes]
rs12520083	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12652801	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13157647	0.92[ASN][1000 genomes]
rs13159280	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13163457	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13163787	0.90[ASN][1000 genomes]
rs13170195	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13171465	0.90[ASN][1000 genomes]
rs13181933	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13182298	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1558147	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166047	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs168711	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs168712	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17212260	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17212359	0.83[ASN][1000 genomes]
rs173587	0.90[ASN][1000 genomes]
rs17426347	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17426499	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17426578	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492228	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17796750	0.92[ASN][1000 genomes]
rs17796792	0.90[ASN][1000 genomes]
rs185089	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1859894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859895	0.90[ASN][1000 genomes]
rs187465	0.84[ASN][1000 genomes]
rs187466	0.88[ASN][1000 genomes]
rs1974569	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2024059	0.87[ASN][1000 genomes]
rs2024060	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2024061	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2024062	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2079533	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079534	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2097969	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190796	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2215009	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215010	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2400207	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248771	0.84[ASN][1000 genomes]
rs248772	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs248773	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs248774	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs248775	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs248776	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs248777	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs248778	0.96[ASN][1000 genomes]
rs248779	0.84[ASN][1000 genomes]
rs248780	0.84[ASN][1000 genomes]
rs248781	0.85[ASN][1000 genomes]
rs248783	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs248784	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs248785	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2895646	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906817	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2906819	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2906820	0.94[ASN][1000 genomes]
rs2962518	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2962519	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2962520	0.91[ASN][1000 genomes]
rs2962522	0.90[ASN][1000 genomes]
rs35821941	0.90[ASN][1000 genomes]
rs3733937	0.90[ASN][1000 genomes]
rs4141240	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4266461	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4502881	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4526155	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4571521	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912703	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4913060	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58789987	0.82[AFR][1000 genomes]
rs60758869	0.82[AFR][1000 genomes]
rs62392691	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6580402	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6580403	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6580404	0.92[ASN][1000 genomes]
rs6580406	0.84[ASN][1000 genomes]
rs6858982	0.92[ASN][1000 genomes]
rs6864121	0.92[ASN][1000 genomes]
rs6869873	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6871772	0.92[ASN][1000 genomes]
rs6872997	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6876287	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6876373	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6876582	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877694	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6879927	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6879988	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6882211	0.91[ASN][1000 genomes]
rs6889715	0.89[ASN][1000 genomes]
rs6890967	0.91[ASN][1000 genomes]
rs6891636	0.83[ASN][1000 genomes]
rs6891869	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6893852	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894532	0.90[ASN][1000 genomes]
rs6895584	0.92[ASN][1000 genomes]
rs6896268	0.91[ASN][1000 genomes]
rs6897800	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6898375	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898385	0.92[ASN][1000 genomes]
rs6898427	0.90[ASN][1000 genomes]
rs740368	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7444347	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs758037	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758038	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703851	0.84[ASN][1000 genomes]
rs7706656	0.92[ASN][1000 genomes]
rs7713773	0.92[ASN][1000 genomes]
rs7715679	0.84[ASN][1000 genomes]
rs7715846	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716076	0.83[ASN][1000 genomes]
rs7730462	0.92[ASN][1000 genomes]
rs7733648	0.96[ASN][1000 genomes]
rs9325000	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9325002	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs977204	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977205	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12522478	LARS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145362200-145399200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:145362600-145404400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:145368400-145386600	Weak transcription	HepG2	liver
4	chr5:145369400-145393400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:145369600-145393400	Weak transcription	NH-A	brain
6	chr5:145370000-145392800	Weak transcription	Colonic Mucosa	Colon
7	chr5:145370800-145386400	Weak transcription	Gastric	stomach
8	chr5:145373200-145406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:145373400-145392800	Weak transcription	Esophagus	oesophagus
10	chr5:145373400-145396800	Weak transcription	Left Ventricle	heart
11	chr5:145373400-145408800	Weak transcription	Aorta	Aorta
12	chr5:145373400-145428400	Weak transcription	Fetal Stomach	stomach
13	chr5:145379000-145387600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:145379200-145386200	Weak transcription	Fetal Intestine Large	intestine
15	chr5:145379400-145389400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:145379400-145412200	Weak transcription	Right Ventricle	heart
17	chr5:145380000-145389000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:145381400-145386600	Weak transcription	Stomach Mucosa	stomach
19	chr5:145381400-145387000	Strong transcription	NHEK	skin
20	chr5:145381400-145388800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:145381600-145392200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:145382400-145386600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:145384800-145386600	Genic enhancers	Duodenum Mucosa	Duodenum
24	chr5:145384800-145387200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:145384800-145388000	Enhancers	Liver	Liver
26	chr5:145385000-145386000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr5:145385000-145387600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:145385200-145386800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:145385400-145386200	Weak transcription	HMEC	breast
30	chr5:145385400-145398400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:145385800-145386200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:145385800-145386400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr5:145385800-145386800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:145385800-145386800	Enhancers	Pancreas	Pancrea
35	chr5:145385800-145386800	Enhancers	Small Intestine	intestine
36	chr5:145385800-145388000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:145385800-145396600	Weak transcription	Osteobl	bone

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