Variant report

Variant	rs4614628
Chromosome Location	chr13:50485808-50485809
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1043208	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10492746	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1063181	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1063183	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100038	0.90[ASN][1000 genomes]
rs12100048	0.81[AFR][1000 genomes]
rs12583615	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12583637	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12583652	0.81[EUR][1000 genomes]
rs12583823	0.83[EUR][1000 genomes]
rs12584069	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12584122	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585753	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12585966	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17073655	0.81[EUR][1000 genomes]
rs1807033	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2066540	0.81[EUR][1000 genomes]
rs2066546	0.81[EUR][1000 genomes]
rs2066547	0.81[EUR][1000 genomes]
rs2066566	0.81[AFR][1000 genomes]
rs2181267	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2181268	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2407881	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2407882	0.81[EUR][1000 genomes]
rs41308548	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55638467	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55727821	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55869555	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57230741	0.81[EUR][1000 genomes]
rs59931782	0.83[EUR][1000 genomes]
rs60574696	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60583460	0.81[EUR][1000 genomes]
rs61960398	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61960442	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960445	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960446	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960447	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61960449	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960450	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960451	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960454	0.83[EUR][1000 genomes]
rs61960455	0.83[EUR][1000 genomes]
rs61960457	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61961261	0.92[EUR][1000 genomes]
rs61961263	0.81[EUR][1000 genomes]
rs61961298	0.82[EUR][1000 genomes]
rs61961299	0.81[EUR][1000 genomes]
rs61961301	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61961303	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61961304	0.83[AFR][1000 genomes]
rs61961323	0.83[AFR][1000 genomes]
rs61961325	0.83[AFR][1000 genomes]
rs6561571	0.81[EUR][1000 genomes]
rs6561572	0.81[EUR][1000 genomes]
rs73194486	0.95[ASN][1000 genomes]
rs73196708	0.90[ASN][1000 genomes]
rs73196731	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs732729	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7328892	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7334063	0.81[EUR][1000 genomes]
rs7336477	0.83[EUR][1000 genomes]
rs74078717	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7982125	0.83[AFR][1000 genomes]
rs7984332	0.81[EUR][1000 genomes]
rs7986432	0.83[EUR][1000 genomes]
rs7990502	0.81[EUR][1000 genomes]
rs7991454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992903	0.83[EUR][1000 genomes]
rs7994224	0.81[EUR][1000 genomes]
rs7995557	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7997305	0.83[EUR][1000 genomes]
rs7997402	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7997638	0.81[EUR][1000 genomes]
rs7998391	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9670083	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1851738	chr13:50474326-50507944	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4614628	TRIM13	Cis_1M	lymphoblastoid	RTeQTL
rs4614628	DLEU1	Cis_1M	lymphoblastoid	RTeQTL
rs4614628	TRIM13	cis	Nerve Tibial	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50468600-50486000	Weak transcription	Liver	Liver
2	chr13:50476400-50497400	Weak transcription	Pancreas	Pancrea
3	chr13:50477800-50499600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr13:50478000-50487200	Weak transcription	Ovary	ovary
5	chr13:50478000-50495200	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:50478600-50491400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:50479200-50489600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:50479400-50490600	Weak transcription	Esophagus	oesophagus
9	chr13:50479600-50508600	Weak transcription	K562	blood
10	chr13:50479800-50500000	Weak transcription	Colon Smooth Muscle	Colon
11	chr13:50480800-50508800	Weak transcription	Fetal Brain Male	brain
12	chr13:50481400-50486200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:50481400-50489600	Weak transcription	Fetal Intestine Large	intestine
14	chr13:50481800-50509600	Weak transcription	Right Ventricle	heart
15	chr13:50482000-50488000	Weak transcription	A549	lung
16	chr13:50482200-50486000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:50482200-50486000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:50482200-50486200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:50482200-50486200	Weak transcription	Osteobl	bone
20	chr13:50482200-50488000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:50482200-50490400	Weak transcription	Fetal Muscle Leg	muscle
22	chr13:50482400-50486000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:50482400-50486000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:50482400-50488000	Weak transcription	HMEC	breast
25	chr13:50482400-50489600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr13:50482600-50486000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr13:50482600-50488000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:50482600-50490200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:50482600-50490400	Weak transcription	NHLF	lung
30	chr13:50482600-50509600	Weak transcription	Primary B cells from cord blood	blood
31	chr13:50482800-50488000	Weak transcription	Placenta	Placenta
32	chr13:50483000-50492200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:50483600-50486000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:50483600-50486000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:50483800-50490200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr13:50484000-50509600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:50484200-50490200	Weak transcription	Aorta	Aorta
38	chr13:50484200-50491600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr13:50484200-50494000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr13:50484400-50486000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:50484400-50486000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:50484400-50486000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr13:50484400-50486000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:50484400-50486000	Weak transcription	Adipose Nuclei	Adipose
45	chr13:50484400-50486000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr13:50484400-50486000	Weak transcription	Fetal Lung	lung
47	chr13:50484400-50486000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr13:50484400-50486000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr13:50484400-50488000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:50484400-50488000	Weak transcription	HSMM	muscle

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