Variant report

Variant	rs7716076
Chromosome Location	chr5:145439098-145439099
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	chr20:60955866..60958535-chr5:145439066..145442046,3	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10463379	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10463381	0.85[ASN][1000 genomes]
rs10463382	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1056149	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11167925	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11167926	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11167927	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11167928	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11167929	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1158395	0.83[ASN][1000 genomes]
rs1160791	0.83[ASN][1000 genomes]
rs11738320	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11738329	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11739231	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11739577	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11740034	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11740294	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11740577	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11740646	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11741665	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11741958	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11742574	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11742599	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11742606	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11743632	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11743638	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744031	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744037	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746712	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11746953	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11747075	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11747459	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11748213	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11748238	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11749557	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11749886	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11750281	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11949400	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11950760	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12187381	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12188401	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12522478	0.83[ASN][1000 genomes]
rs12652801	0.83[ASN][1000 genomes]
rs13157647	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13159280	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13163457	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13163787	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13170195	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13171465	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13181933	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13182298	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1558147	0.83[ASN][1000 genomes]
rs166047	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs168711	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs168712	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17212260	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17212359	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs173587	0.85[AMR][1000 genomes];0.90[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	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17796792	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs185089	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1859894	0.83[ASN][1000 genomes]
rs1859895	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs187465	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs187466	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2024059	0.83[EUR][1000 genomes]
rs2024060	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2024061	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2024062	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2079533	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2079534	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2097969	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2190796	0.81[ASN][1000 genomes]
rs2215009	0.83[ASN][1000 genomes]
rs2215010	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2400207	0.83[ASN][1000 genomes]
rs248771	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs248772	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248773	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248774	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248775	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248776	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248777	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248778	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248779	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs248780	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs248781	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248783	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs248784	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs248785	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2895646	0.83[ASN][1000 genomes]
rs2906817	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2906819	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2906820	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2962518	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2962519	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2962520	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2962522	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35821941	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3733937	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4141240	0.83[ASN][1000 genomes]
rs4266461	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4502881	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4526155	0.82[AMR][1000 genomes];0.88[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	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580402	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6580403	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580404	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580406	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6858982	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6864121	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6869873	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6871772	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6872997	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6876287	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6876373	0.81[ASN][1000 genomes]
rs6876582	0.83[ASN][1000 genomes]
rs6877694	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6879988	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6882211	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6889715	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6890967	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6891636	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6891869	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6893852	0.83[ASN][1000 genomes]
rs6894532	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6895584	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6896268	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6897800	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6898375	0.83[ASN][1000 genomes]
rs6898385	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6898427	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs740368	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7444347	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs758037	0.83[ASN][1000 genomes]
rs758038	0.83[ASN][1000 genomes]
rs7703851	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7706656	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7713773	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7715679	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7715846	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7730462	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7733648	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9325000	0.83[ASN][1000 genomes]
rs9325002	0.84[AMR][1000 genomes];0.90[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
rs7716076	LARS	cis	Thyroid	GTEx
rs7716076	LARS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145412600-145453200	Weak transcription	Pancreas	Pancrea
2	chr5:145422800-145441800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:145427200-145442000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:145428200-145448200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:145428800-145444200	Strong transcription	NHEK	skin
6	chr5:145428800-145448600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr5:145428800-145450000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:145429000-145446800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:145429000-145447400	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr5:145429000-145448800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:145429200-145445000	Weak transcription	Hela-S3	cervix
12	chr5:145429600-145459600	Weak transcription	Stomach Mucosa	stomach
13	chr5:145429800-145446800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:145431400-145447600	Strong transcription	Fetal Intestine Large	intestine
15	chr5:145431600-145449600	Weak transcription	Osteobl	bone
16	chr5:145431800-145444400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:145432600-145443200	Strong transcription	Liver	Liver
18	chr5:145432600-145444000	Strong transcription	Fetal Intestine Small	intestine
19	chr5:145434400-145450800	Weak transcription	Brain Anterior Caudate	brain
20	chr5:145435400-145448400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr5:145435600-145442400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:145435600-145442800	Strong transcription	Esophagus	oesophagus
23	chr5:145436000-145451200	Weak transcription	HepG2	liver
24	chr5:145436200-145442000	Weak transcription	Aorta	Aorta
25	chr5:145437400-145444000	Strong transcription	Fetal Stomach	stomach
26	chr5:145437600-145439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:145437800-145441000	Strong transcription	Gastric	stomach
28	chr5:145438200-145439200	Enhancers	Fetal Muscle Leg	muscle
29	chr5:145438200-145444200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:145438400-145439600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:145438600-145439200	Strong transcription	Colonic Mucosa	Colon
32	chr5:145438600-145439400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:145438600-145439400	Weak transcription	Right Atrium	heart
34	chr5:145438600-145439800	Weak transcription	NH-A	brain
35	chr5:145438600-145442000	Active TSS	Left Ventricle	heart
36	chr5:145438800-145439200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:145438800-145439200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:145438800-145439600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:145438800-145439600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:145438800-145439600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:145438800-145439600	Enhancers	K562	blood
42	chr5:145439000-145439200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:145439000-145439400	Enhancers	Fetal Brain Male	brain
44	chr5:145439000-145439400	Enhancers	Fetal Heart	heart
45	chr5:145439000-145439800	Active TSS	Right Ventricle	heart
46	chr5:145439000-145439800	Weak transcription	HMEC	breast
47	chr5:145439000-145449200	Weak transcription	Rectal Smooth Muscle	rectum

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