Variant report

Variant	rs62276520
Chromosome Location	chr3:100212113-100212114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11920006	0.96[ASN][1000 genomes]
rs11923942	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11926280	0.87[ASN][1000 genomes]
rs11927516	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631075	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12634371	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12636805	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12639465	0.89[EUR][1000 genomes]
rs4132537	0.87[ASN][1000 genomes]
rs4928097	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4928098	0.96[ASN][1000 genomes]
rs4928111	0.81[AMR][1000 genomes]
rs57018910	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58059387	0.96[ASN][1000 genomes]
rs58789183	0.81[AMR][1000 genomes]
rs59299896	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59771628	0.96[ASN][1000 genomes]
rs60071944	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60272820	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61636409	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62276517	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62276521	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276522	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62276523	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62276526	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62276527	0.87[ASN][1000 genomes]
rs62276556	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62276559	0.89[EUR][1000 genomes]
rs6441285	0.88[ASN][1000 genomes]
rs66791174	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67600559	0.95[EUR][1000 genomes]
rs6763079	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6763178	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67774605	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6789867	0.96[ASN][1000 genomes]
rs6798264	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73152126	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7429072	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7429277	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7429604	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7430698	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7430715	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7431846	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7619507	0.95[ASN][1000 genomes]
rs7630198	0.96[ASN][1000 genomes]
rs9813069	0.83[ASN][1000 genomes]
rs9851429	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	nsv877218	chr3:100176360-100267619	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62276520	TMEM45A	cis	Whole Blood	GTEx

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100210400-100212200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr3:100210400-100212200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:100210400-100212600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:100210400-100212600	Active TSS	Brain Anterior Caudate	brain
5	chr3:100210600-100212200	Active TSS	Brain Germinal Matrix	brain
6	chr3:100210600-100212200	Active TSS	Brain Hippocampus Middle	brain
7	chr3:100210600-100212200	Active TSS	Fetal Muscle Trunk	muscle
8	chr3:100210600-100212200	Active TSS	A549	lung
9	chr3:100210600-100212400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:100210600-100212400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:100210600-100212400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:100210600-100212400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:100210600-100212400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr3:100210600-100212400	Active TSS	Rectal Smooth Muscle	rectum
15	chr3:100210600-100212400	Active TSS	Right Atrium	heart
16	chr3:100210600-100212400	Active TSS	Stomach Smooth Muscle	stomach
17	chr3:100210600-100212800	Active TSS	HSMM	muscle
18	chr3:100210800-100212200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr3:100210800-100212200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr3:100210800-100212200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr3:100210800-100212200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:100210800-100212400	Active TSS	Aorta	Aorta
23	chr3:100210800-100212400	Active TSS	Fetal Kidney	kidney
24	chr3:100210800-100212400	Active TSS	Ovary	ovary
25	chr3:100210800-100212400	Active TSS	NHDF-Ad	bronchial
26	chr3:100210800-100212400	Active TSS	NHLF	lung
27	chr3:100210800-100212600	Active TSS	Placenta Amnion	Placenta Amnion
28	chr3:100210800-100212800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:100211000-100212200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr3:100211000-100212200	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr3:100211000-100212200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr3:100211000-100212200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr3:100211000-100212200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
34	chr3:100211000-100212200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr3:100211000-100212200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:100211000-100212200	Active TSS	Fetal Brain Male	brain
37	chr3:100211000-100212200	Active TSS	Fetal Lung	lung
38	chr3:100211000-100212200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr3:100211000-100212200	Active TSS	Hela-S3	cervix
40	chr3:100211000-100212200	Active TSS	K562	blood
41	chr3:100211000-100212400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr3:100211000-100212400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:100211000-100212400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:100211000-100212400	Active TSS	Fetal Intestine Large	intestine
45	chr3:100211000-100212400	Active TSS	Fetal Stomach	stomach
46	chr3:100211000-100212400	Active TSS	GM12878-XiMat	blood
47	chr3:100211000-100212400	Active TSS	HSMMtube	muscle
48	chr3:100211000-100212400	Active TSS	NH-A	brain
49	chr3:100211000-100212600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:100211000-100212600	Active TSS	Liver	Liver

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