Variant report

Variant	rs28637056
Chromosome Location	chr4:152652501-152652502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10007015	0.88[EUR][1000 genomes]
rs10007167	0.88[EUR][1000 genomes]
rs10019048	0.88[EUR][1000 genomes]
rs10023298	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028410	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10028961	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10049728	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10049991	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10776524	0.88[EUR][1000 genomes]
rs1105534	0.88[EUR][1000 genomes]
rs1105535	0.88[EUR][1000 genomes]
rs1105536	0.88[EUR][1000 genomes]
rs11734799	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11932383	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12331037	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502055	0.88[EUR][1000 genomes]
rs13137669	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13138986	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13146981	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13149588	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1355413	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1366909	0.88[EUR][1000 genomes]
rs1511170	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17027798	0.87[EUR][1000 genomes]
rs17360475	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864300	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1877187	0.88[EUR][1000 genomes]
rs1896883	0.87[EUR][1000 genomes]
rs2007218	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2007445	0.88[EUR][1000 genomes]
rs2303866	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2840130	0.88[EUR][1000 genomes]
rs28710456	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3749561	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3749563	0.87[EUR][1000 genomes]
rs3792691	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4383600	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4571	0.87[EUR][1000 genomes]
rs4696104	0.88[EUR][1000 genomes]
rs4696109	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696111	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696277	0.83[EUR][1000 genomes]
rs4696283	0.86[EUR][1000 genomes]
rs4696284	0.88[EUR][1000 genomes]
rs4696285	0.88[EUR][1000 genomes]
rs4696291	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4696293	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696294	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62327352	0.84[AMR][1000 genomes]
rs6535809	0.88[EUR][1000 genomes]
rs6535811	0.88[EUR][1000 genomes]
rs6535812	0.88[EUR][1000 genomes]
rs6535813	0.87[EUR][1000 genomes]
rs6535814	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6535815	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6535817	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6535818	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6535819	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6535821	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6810860	0.88[EUR][1000 genomes]
rs6817058	0.88[EUR][1000 genomes]
rs6817586	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6818667	0.88[EUR][1000 genomes]
rs6823002	0.88[EUR][1000 genomes]
rs6823194	0.88[EUR][1000 genomes]
rs6823421	0.88[EUR][1000 genomes]
rs6823423	0.88[EUR][1000 genomes]
rs6823462	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6832562	0.88[EUR][1000 genomes]
rs6833368	0.88[EUR][1000 genomes]
rs6834095	0.88[EUR][1000 genomes]
rs6838966	0.88[EUR][1000 genomes]
rs6839074	0.88[EUR][1000 genomes]
rs6840360	0.88[EUR][1000 genomes]
rs6840678	0.88[EUR][1000 genomes]
rs6841204	0.88[EUR][1000 genomes]
rs6841783	0.88[EUR][1000 genomes]
rs6845944	0.87[EUR][1000 genomes]
rs6846114	0.88[EUR][1000 genomes]
rs6849050	0.88[EUR][1000 genomes]
rs7439465	0.87[EUR][1000 genomes]
rs749982	0.88[EUR][1000 genomes]
rs751012	0.88[EUR][1000 genomes]
rs751014	0.88[EUR][1000 genomes]
rs7663045	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7667197	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7669977	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7671651	0.87[EUR][1000 genomes]
rs7684350	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695162	0.82[EUR][1000 genomes]
rs907237	0.88[EUR][1000 genomes]
rs9307887	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995704	0.84[EUR][1000 genomes]
rs9998462	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508322	chr4:152617079-152678951	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28637056	PET112L	cis	multi-tissue	Pritchard

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152616600-152665400	Weak transcription	NHDF-Ad	bronchial
2	chr4:152629000-152658800	Weak transcription	Pancreas	Pancrea
3	chr4:152629200-152657400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:152629200-152681400	Weak transcription	Colonic Mucosa	Colon
5	chr4:152629400-152681200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:152633400-152657000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:152640600-152658800	Weak transcription	Lung	lung
8	chr4:152640800-152658800	Weak transcription	Right Atrium	heart
9	chr4:152641000-152657000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:152641000-152657000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:152641000-152657400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:152641200-152657600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:152641400-152657000	Weak transcription	Aorta	Aorta
14	chr4:152641400-152657000	Weak transcription	Liver	Liver
15	chr4:152643200-152657000	Weak transcription	Fetal Intestine Small	intestine
16	chr4:152644400-152657000	Weak transcription	Primary T cells from cord blood	blood
17	chr4:152644600-152666600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:152645000-152657400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr4:152646600-152657000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:152649000-152657200	Weak transcription	Primary B cells from cord blood	blood
21	chr4:152651800-152665000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:152651800-152665200	Weak transcription	HSMM	muscle
23	chr4:152651800-152667200	Weak transcription	Gastric	stomach
24	chr4:152651800-152681400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:152652000-152665000	Weak transcription	K562	blood
26	chr4:152652200-152657000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:152652200-152657000	Weak transcription	NHEK	skin
28	chr4:152652200-152657400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:152652200-152658800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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