Variant report

Variant	rs73414932
Chromosome Location	chr15:52837811-52837812
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52820174..52822333-chr15:52833882..52838194,4	MCF-7	breast:
2	chr15:52836622..52839186-chr15:52841792..52845841,4	K562	blood:
3	chr15:52833192..52836682-chr15:52837514..52841667,6	K562	blood:
4	chr15:52837261..52840412-chr15:52840986..52844425,3	K562	blood:

Variant related genes	Relation type
ENSG00000197535	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1055746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1055747	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11539782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11852533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11853096	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11853137	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11854942	0.88[AMR][1000 genomes]
rs11854997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11855859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11857085	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11857682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857857	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11858238	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17542396	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17542520	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17542527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17614428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17614498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17614529	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2899490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4774633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4776055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4776056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776057	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55800146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56947153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57097265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57167959	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58185101	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58246435	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59281006	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60426742	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73396714	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73396718	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73396723	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396728	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396733	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73414933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74014300	0.93[AMR][1000 genomes]
rs74016845	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1047775	chr15:52822050-52912228	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs73414932	ARPP19	cis	Nerve Tibial	GTEx
rs73414932	ARPP19	cis	lung	GTEx
rs73414932	ARPP19	cis	Muscle Skeletal	GTEx
rs73414932	ARPP19	cis	Esophagus Muscularis	GTEx
rs73414932	ARPP19	cis	Artery Tibial	GTEx
rs73414932	ARPP19	cis	Heart Left Ventricle	GTEx
rs73414932	ARPP19	cis	Adipose Subcutaneous	GTEx
rs73414932	ARPP19	cis	Whole Blood	GTEx
rs73414932	ARPP19	cis	Skin Sun Exposed Lower leg	GTEx
rs73414932	ARPP19	cis	Thyroid	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52822200-52839600	Weak transcription	Right Atrium	heart
2	chr15:52822800-52838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:52828800-52850400	Weak transcription	Fetal Brain Male	brain
4	chr15:52829800-52838000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:52830000-52841200	Weak transcription	HepG2	liver
6	chr15:52831800-52838000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:52832800-52838000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:52833200-52838000	Weak transcription	Liver	Liver
9	chr15:52834200-52838000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:52834600-52838000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:52834800-52838000	Weak transcription	Primary B cells from cord blood	blood
12	chr15:52835200-52838000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:52835400-52838200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:52835600-52838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:52835800-52838000	Weak transcription	Adipose Nuclei	Adipose
16	chr15:52835800-52838000	Weak transcription	Dnd41	blood
17	chr15:52835800-52838000	Weak transcription	HMEC	breast
18	chr15:52835800-52838200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:52835800-52838200	Weak transcription	Left Ventricle	heart
20	chr15:52835800-52845800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:52836000-52838000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:52836000-52838000	Weak transcription	Primary T cells from cord blood	blood
23	chr15:52836000-52838000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:52836000-52838200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:52836000-52838200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr15:52836000-52838200	Weak transcription	Ovary	ovary
27	chr15:52836000-52838200	Weak transcription	Right Ventricle	heart
28	chr15:52836000-52838200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:52836000-52838200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:52836000-52838200	Weak transcription	HSMMtube	muscle
31	chr15:52836000-52838200	Weak transcription	HUVEC	blood vessel
32	chr15:52836200-52838000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr15:52836200-52838000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:52836200-52838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:52836200-52838000	Weak transcription	Brain Hippocampus Middle	brain
36	chr15:52836200-52838000	Weak transcription	NHLF	lung
37	chr15:52836200-52838200	Weak transcription	NH-A	brain
38	chr15:52836200-52838400	Weak transcription	Brain Angular Gyrus	brain
39	chr15:52836200-52851400	Weak transcription	Fetal Kidney	kidney
40	chr15:52836400-52838000	Weak transcription	Fetal Thymus	thymus
41	chr15:52836400-52838000	Weak transcription	Osteobl	bone
42	chr15:52836400-52838200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:52836400-52838200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr15:52836400-52838200	Weak transcription	Brain Substantia Nigra	brain
45	chr15:52836400-52838200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr15:52836400-52838200	Weak transcription	NHEK	skin
47	chr15:52836400-52838400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr15:52836400-52842200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:52836400-52855200	Weak transcription	Small Intestine	intestine
50	chr15:52836600-52838400	Weak transcription	Rectal Mucosa Donor 31	rectum

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