Variant report

Variant	rs62276523
Chromosome Location	chr3:100213336-100213337
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	chr3:100213098..100216032-chr3:100220024..100221553,2	K562	blood:
2	chr3:100212615..100215029-chr3:100245878..100248398,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11920006	0.92[ASN][1000 genomes]
rs11923942	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11926280	0.83[ASN][1000 genomes]
rs11927516	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12631075	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12634371	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12636805	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12639465	0.86[EUR][1000 genomes]
rs4132537	0.84[ASN][1000 genomes]
rs4928097	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4928098	0.92[ASN][1000 genomes]
rs4928111	0.81[AMR][1000 genomes]
rs57018910	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58059387	0.92[ASN][1000 genomes]
rs58789183	0.81[AMR][1000 genomes]
rs59299896	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59771628	0.92[ASN][1000 genomes]
rs60071944	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60272820	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61636409	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62276517	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62276520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62276521	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62276522	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276526	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62276527	0.83[ASN][1000 genomes]
rs62276556	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62276559	0.86[EUR][1000 genomes]
rs6441285	0.87[ASN][1000 genomes]
rs66791174	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67600559	0.92[EUR][1000 genomes]
rs6763079	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6763178	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67774605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6789867	0.92[ASN][1000 genomes]
rs6798264	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73152126	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7429072	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7429277	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7429604	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7430698	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7430715	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7431846	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7619507	0.92[ASN][1000 genomes]
rs7630198	0.92[ASN][1000 genomes]
rs9851429	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[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
rs62276523	TMEM45A	cis	Whole Blood	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100211000-100214000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:100211800-100213600	Weak transcription	Spleen	Spleen
3	chr3:100211800-100213800	Weak transcription	Lung	lung
4	chr3:100212000-100215400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:100212000-100215800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:100212200-100215600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr3:100212400-100214000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:100212400-100214400	Weak transcription	NHDF-Ad	bronchial
9	chr3:100212400-100214800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:100212400-100214800	Weak transcription	NHEK	skin
11	chr3:100212400-100215200	Weak transcription	HSMMtube	muscle
12	chr3:100212400-100215200	Weak transcription	NH-A	brain
13	chr3:100212400-100215200	Weak transcription	NHLF	lung
14	chr3:100212400-100215400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:100212400-100215600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:100212400-100219200	Weak transcription	Aorta	Aorta
17	chr3:100212400-100222800	Weak transcription	Ovary	ovary
18	chr3:100212600-100213600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:100212600-100213600	Weak transcription	Brain Anterior Caudate	brain
20	chr3:100212600-100214800	Weak transcription	HMEC	breast
21	chr3:100212600-100215200	Weak transcription	Osteobl	bone
22	chr3:100212600-100215400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:100212800-100213600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:100212800-100213600	Weak transcription	HepG2	liver
25	chr3:100212800-100214400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:100212800-100214800	Weak transcription	HSMM	muscle
27	chr3:100212800-100215200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:100212800-100217800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:100212800-100224800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:100213000-100213400	Weak transcription	Fetal Lung	lung
31	chr3:100213000-100213400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:100213000-100213600	Enhancers	GM12878-XiMat	blood
33	chr3:100213200-100213600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:100213200-100213600	Enhancers	Liver	Liver
35	chr3:100213200-100215000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr3:100213200-100216400	Weak transcription	Fetal Stomach	stomach

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