Variant report

Variant	rs1056149
Chromosome Location	chr5:145442203-145442204
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145442111..145444573-chr5:145459744..145461305,2	K562	blood:

Extended variants
information (count: 154 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10463379	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10463381	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10463382	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11167925	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11167926	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11167927	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11167928	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11167929	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1158395	0.83[ASN][1000 genomes]
rs1160791	0.83[ASN][1000 genomes]
rs11738320	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11738329	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11739231	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11739577	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11740034	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11740294	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11740577	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11740646	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11741665	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11741958	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742574	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11742599	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11742606	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11743632	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11743638	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744031	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744037	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746712	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11746953	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11747075	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11747459	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11748213	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11748238	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11749557	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11749886	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11750281	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11949400	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11950760	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12187381	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12188401	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12522478	0.83[ASN][1000 genomes]
rs12652801	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs13157647	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13159280	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13163457	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13163787	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13170195	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13171465	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13181933	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13182298	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1558147	0.83[ASN][1000 genomes]
rs166047	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs168711	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs168712	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17212260	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17212359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173587	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17426347	0.82[ASN][1000 genomes]
rs17426499	0.83[ASN][1000 genomes]
rs17426578	0.83[ASN][1000 genomes]
rs17492228	0.83[ASN][1000 genomes]
rs17796750	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17796792	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs185089	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1859894	0.83[ASN][1000 genomes]
rs1859895	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs187465	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs187466	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2024059	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2024060	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2024061	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2024062	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2079533	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2079534	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2097969	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2190796	0.96[CEU][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2215009	0.83[ASN][1000 genomes]
rs2215010	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2400207	0.83[ASN][1000 genomes]
rs248771	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs248772	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248773	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248774	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248775	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248776	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248777	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248778	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248779	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs248780	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs248781	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248783	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs248784	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs248785	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2895646	0.83[ASN][1000 genomes]
rs2906817	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2906819	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2906820	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2962518	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2962519	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2962520	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2962522	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35821941	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3733937	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4141240	0.83[ASN][1000 genomes]
rs4266461	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4502881	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4526155	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4571521	0.83[ASN][1000 genomes]
rs4912703	0.83[ASN][1000 genomes]
rs4913060	0.83[ASN][1000 genomes]
rs62392691	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580402	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6580403	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580404	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580406	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6858982	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6864121	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6869873	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6871772	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6872997	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6876287	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6876373	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6876582	0.96[CEU][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs6877694	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6879988	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6882211	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6889715	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6890967	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6891636	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6891869	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6893852	0.83[ASN][1000 genomes]
rs6894532	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6895584	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6896268	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6897800	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6898375	0.96[CEU][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs6898385	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6898427	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs740368	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7444347	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs758037	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs758038	0.83[ASN][1000 genomes]
rs7703851	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7706656	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7713773	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7715679	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7715846	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7716076	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7730462	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7733648	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9325000	0.83[ASN][1000 genomes]
rs9325002	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs977204	0.83[ASN][1000 genomes]
rs977205	0.83[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1056149	LARS	cis	Thyroid	GTEx
rs1056149	LARS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145412600-145453200	Weak transcription	Pancreas	Pancrea
2	chr5:145428200-145448200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:145428800-145444200	Strong transcription	NHEK	skin
4	chr5:145428800-145448600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr5:145428800-145450000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:145429000-145446800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:145429000-145447400	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr5:145429000-145448800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:145429200-145445000	Weak transcription	Hela-S3	cervix
10	chr5:145429600-145459600	Weak transcription	Stomach Mucosa	stomach
11	chr5:145429800-145446800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:145431400-145447600	Strong transcription	Fetal Intestine Large	intestine
13	chr5:145431600-145449600	Weak transcription	Osteobl	bone
14	chr5:145431800-145444400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:145432600-145443200	Strong transcription	Liver	Liver
16	chr5:145432600-145444000	Strong transcription	Fetal Intestine Small	intestine
17	chr5:145434400-145450800	Weak transcription	Brain Anterior Caudate	brain
18	chr5:145435400-145448400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr5:145435600-145442400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:145435600-145442800	Strong transcription	Esophagus	oesophagus
21	chr5:145436000-145451200	Weak transcription	HepG2	liver
22	chr5:145437400-145444000	Strong transcription	Fetal Stomach	stomach
23	chr5:145438200-145444200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:145439000-145449200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:145439600-145442600	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:145439600-145446400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:145439800-145442600	Weak transcription	Right Ventricle	heart
28	chr5:145439800-145447400	Strong transcription	HMEC	breast
29	chr5:145441000-145443600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:145441400-145442600	Strong transcription	Gastric	stomach
31	chr5:145441400-145443600	Strong transcription	Colonic Mucosa	Colon
32	chr5:145441600-145443000	Genic enhancers	Fetal Heart	heart
33	chr5:145441800-145442400	Weak transcription	Right Atrium	heart
34	chr5:145441800-145443200	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr5:145442000-145442600	Strong transcription	Aorta	Aorta
36	chr5:145442000-145442800	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:145442200-145442600	Strong transcription	NH-A	brain
38	chr5:145442200-145442800	Genic enhancers	Left Ventricle	heart

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