Variant report

Variant	rs6493552
Chromosome Location	chr15:52595612-52595613
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52594481..52597442-chr15:52597861..52600485,2	K562	blood:
2	chr15:52589027..52591995-chr15:52593417..52596143,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11852464	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11853114	0.90[CEU][hapmap]
rs11853452	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs11854942	0.86[EUR][1000 genomes]
rs16964760	1.00[CHD][hapmap]
rs16964764	1.00[CHD][hapmap]
rs17542396	0.91[CEU][hapmap]
rs74014300	0.80[EUR][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	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6493552	ARPP19	cis	Artery Tibial	GTEx
rs6493552	ARPP-19	Cis_1M	lymphoblastoid	RTeQTL
rs6493552	ARPP19	cis	Heart Left Ventricle	GTEx
rs6493552	MYO5A	Cis_1M	lymphoblastoid	RTeQTL
rs6493552	ARPP19	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52588000-52598200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:52588200-52602200	Weak transcription	HSMM	muscle
3	chr15:52588400-52598400	Weak transcription	HMEC	breast
4	chr15:52588400-52602800	Weak transcription	Aorta	Aorta
5	chr15:52589000-52598400	Weak transcription	A549	lung
6	chr15:52591000-52601000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:52591200-52595800	Weak transcription	NHDF-Ad	bronchial
8	chr15:52591200-52598200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:52591200-52602400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:52591400-52598200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:52592800-52597800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr15:52593400-52598400	Weak transcription	Osteobl	bone
13	chr15:52593600-52608600	Weak transcription	Fetal Brain Male	brain
14	chr15:52594400-52601200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:52595000-52595800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr15:52595000-52595800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr15:52595000-52596000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr15:52595000-52596200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr15:52595000-52600800	Weak transcription	Pancreas	Pancrea
20	chr15:52595200-52596000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr15:52595200-52596000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:52595200-52596000	Enhancers	Fetal Stomach	stomach
23	chr15:52595200-52601200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:52595200-52601600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr15:52595200-52605600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:52595400-52595800	Enhancers	Spleen	Spleen
27	chr15:52595400-52596000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:52595400-52596000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr15:52595400-52596000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr15:52595400-52596000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:52595400-52596000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr15:52595400-52596000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr15:52595400-52596000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:52595400-52596200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:52595400-52605600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:52595400-52610800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr15:52595400-52614200	Weak transcription	Fetal Lung	lung
38	chr15:52595600-52595800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:52595600-52595800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:52595600-52595800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:52595600-52595800	Enhancers	Adipose Nuclei	Adipose
42	chr15:52595600-52595800	Enhancers	Ovary	ovary
43	chr15:52595600-52596000	Enhancers	Primary T cells fromperipheralblood	blood
44	chr15:52595600-52596000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:52595600-52596000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:52595600-52596400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr15:52595600-52597800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:52595600-52598800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr15:52595600-52603400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:52595600-52609800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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