Variant report

Variant	rs11852464
Chromosome Location	chr15:52610898-52610899
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52610090..52612493-chr15:52614638..52616435,2	K562	blood:
2	chr15:52604349..52605876-chr15:52609371..52611245,2	K562	blood:
3	chr15:52582266..52584692-chr15:52609132..52611411,2	MCF-7	breast:
4	chr15:52599470..52602451-chr15:52610830..52612789,2	K562	blood:

Variant related genes	Relation type
ENSG00000197535	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11853452	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11854942	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17542396	0.82[EUR][1000 genomes]
rs57167959	0.81[EUR][1000 genomes]
rs6493552	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74014300	0.81[AMR][1000 genomes];0.86[EUR][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	esv1846455	chr15:52501831-52714452	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11852464	ARPP19	cis	Esophagus Muscularis	GTEx
rs11852464	ARPP19	cis	Heart Left Ventricle	GTEx
rs11852464	ARPP19	cis	Artery Tibial	GTEx
rs11852464	ARPP19	cis	Skin Sun Exposed Lower leg	GTEx
rs11852464	ARPP19	cis	Nerve Tibial	GTEx
rs11852464	MYO5A	Cis_1M	lymphoblastoid	RTeQTL
rs11852464	ARPP-19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52595400-52614200	Weak transcription	Fetal Lung	lung
2	chr15:52595800-52628800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr15:52596000-52611000	Weak transcription	Fetal Stomach	stomach
4	chr15:52596200-52623600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:52597800-52629600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:52597800-52643400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr15:52599200-52611000	Weak transcription	NHLF	lung
8	chr15:52599400-52611000	Weak transcription	Fetal Thymus	thymus
9	chr15:52599400-52611000	Weak transcription	Thymus	Thymus
10	chr15:52599800-52611000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:52599800-52611000	Weak transcription	A549	lung
12	chr15:52600400-52611200	Weak transcription	Colonic Mucosa	Colon
13	chr15:52600600-52611000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:52600600-52624200	Weak transcription	Liver	Liver
15	chr15:52600800-52622800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr15:52600800-52646600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:52601000-52611000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:52601000-52622600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:52601000-52643400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr15:52601200-52611000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:52601200-52615200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:52601200-52622600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:52601400-52611000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:52601400-52611000	Weak transcription	Right Atrium	heart
25	chr15:52601400-52612200	Weak transcription	Right Ventricle	heart
26	chr15:52601600-52622400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:52601600-52622800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr15:52601800-52611000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:52601800-52611000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:52601800-52616600	Strong transcription	Primary B cells from cord blood	blood
31	chr15:52601800-52621400	Weak transcription	Psoas Muscle	Psoas
32	chr15:52602000-52611000	Weak transcription	Esophagus	oesophagus
33	chr15:52602000-52622800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:52602200-52611000	Weak transcription	Fetal Heart	heart
35	chr15:52602200-52622600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:52602600-52622800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr15:52603200-52616400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:52603400-52614800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:52603600-52611000	Weak transcription	Lung	lung
40	chr15:52604800-52611200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:52605000-52611200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:52605000-52615000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:52605200-52615000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:52605400-52622800	Strong transcription	HSMMtube	muscle
45	chr15:52605600-52611000	Weak transcription	NH-A	brain
46	chr15:52606000-52611200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr15:52606200-52611000	Weak transcription	HMEC	breast
48	chr15:52606800-52618600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:52607000-52611000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:52607000-52622800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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