Variant report

Variant	rs7667197
Chromosome Location	chr4:152613952-152613953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152610620..152612985-chr4:152613774..152616542,2	K562	blood:

Variant related genes	Relation type
ENSG00000059691	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10007015	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10007167	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10019048	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10023298	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10028410	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10028961	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10049728	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10049991	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10776524	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1105534	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1105535	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1105536	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11734799	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11932383	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12331037	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12502055	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13137669	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13138986	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13146981	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13149588	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1355413	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1366909	0.95[EUR][1000 genomes]
rs1511170	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17027798	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17360475	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1864300	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1877187	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1896883	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2007218	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2007445	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2303866	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2840130	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28637056	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28710456	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3749561	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3749563	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3792691	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3919716	0.81[EUR][1000 genomes]
rs4383600	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4571	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4696104	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4696109	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4696111	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4696277	0.90[EUR][1000 genomes]
rs4696283	0.93[EUR][1000 genomes]
rs4696284	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4696285	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4696291	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4696293	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4696294	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55668815	0.83[EUR][1000 genomes]
rs6535809	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6535811	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6535812	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6535813	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6535814	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6535815	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6535817	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6535818	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6535819	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6535821	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6810860	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6817058	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6817586	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6818667	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6823002	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6823194	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6823421	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6823423	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6823462	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6832562	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6833368	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6834095	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6838966	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6839074	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6840360	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6840678	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6841204	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6841783	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6845944	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6846114	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6849050	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7439465	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs749982	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs751012	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs751014	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7663045	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7669977	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7671651	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7684350	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7695162	0.89[EUR][1000 genomes]
rs907237	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9307887	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9995704	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9998462	0.83[AMR][1000 genomes];0.94[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	nsv4551	chr4:152582617-152627367	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7667197	PET112L	cis	multi-tissue	Pritchard

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152563800-152625200	Weak transcription	Hela-S3	cervix
2	chr4:152585600-152628600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:152585800-152640400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:152589200-152619200	Weak transcription	Dnd41	blood
5	chr4:152591200-152646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:152592600-152636400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:152596200-152624000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:152596400-152627800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:152596400-152628600	Weak transcription	Colonic Mucosa	Colon
10	chr4:152596400-152640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:152598400-152648200	Weak transcription	HMEC	breast
12	chr4:152598800-152620800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:152599000-152637200	Weak transcription	GM12878-XiMat	blood
14	chr4:152600600-152626200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:152603000-152623200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:152604800-152620600	Weak transcription	Pancreas	Pancrea
17	chr4:152605400-152628600	Weak transcription	Aorta	Aorta
18	chr4:152606000-152614800	Enhancers	Left Ventricle	heart
19	chr4:152606200-152614400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:152606200-152617600	Enhancers	Fetal Heart	heart
21	chr4:152607400-152614000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr4:152607800-152614200	Enhancers	Psoas Muscle	Psoas
23	chr4:152608000-152614800	Enhancers	Fetal Lung	lung
24	chr4:152608000-152615000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:152608000-152615000	Enhancers	HSMM	muscle
26	chr4:152608000-152617800	Enhancers	Fetal Brain Male	brain
27	chr4:152608400-152621200	Weak transcription	Ovary	ovary
28	chr4:152608800-152622200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:152609000-152622800	Weak transcription	A549	lung
30	chr4:152609200-152614600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:152609200-152622200	Weak transcription	Placenta	Placenta
32	chr4:152609200-152640200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:152609400-152614400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:152609600-152614000	Weak transcription	Gastric	stomach
35	chr4:152609600-152616800	Enhancers	Fetal Muscle Leg	muscle
36	chr4:152609600-152617800	Weak transcription	Brain Substantia Nigra	brain
37	chr4:152609600-152621600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr4:152609600-152622000	Weak transcription	Thymus	Thymus
39	chr4:152609600-152628800	Weak transcription	HepG2	liver
40	chr4:152609600-152640400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:152609800-152618200	Weak transcription	Primary B cells from cord blood	blood
42	chr4:152609800-152619200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:152609800-152620600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr4:152609800-152621000	Weak transcription	Brain Angular Gyrus	brain
45	chr4:152609800-152622400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:152609800-152646200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr4:152610000-152614200	Weak transcription	HUVEC	blood vessel
48	chr4:152610000-152619200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:152610200-152614000	Enhancers	Fetal Thymus	thymus
50	chr4:152610200-152619600	Weak transcription	Rectal Mucosa Donor 29	rectum

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