Variant report

Variant	rs7219844
Chromosome Location	chr17:46176048-46176049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46175023..46180196-chr17:46181333..46189268,23	MCF-7	breast:
2	chr17:46166805..46169680-chr17:46175249..46176872,2	K562	blood:
3	chr17:46174648..46181471-chr17:46183317..46187457,20	MCF-7	breast:
4	chr17:46168437..46170885-chr17:46173334..46176896,3	MCF-7	breast:
5	chr17:46174713..46176905-chr17:46204166..46206499,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000002919	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11079810	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11079813	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11654292	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11654342	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11658242	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12103808	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1544597	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56258199	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60707285	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60843764	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6504067	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7207553	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7207937	0.80[AMR][1000 genomes]
rs7210671	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7220398	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7221720	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7221897	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7222646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7224155	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7225288	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73322881	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73322886	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8065797	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8067470	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8071697	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8073220	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9890850	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9893110	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9894076	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9905800	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9907268	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9909922	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7219844	PNPO	Cis_1M	lymphoblastoid	RTeQTL
rs7219844	RP5-890E16.2	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46144800-46177800	Weak transcription	Right Ventricle	heart
2	chr17:46147800-46177600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:46149000-46178000	Weak transcription	Lung	lung
4	chr17:46152400-46177200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:46152600-46176800	Weak transcription	K562	blood
6	chr17:46152600-46177000	Weak transcription	HSMMtube	muscle
7	chr17:46153800-46176800	Weak transcription	NHLF	lung
8	chr17:46154200-46176800	Weak transcription	HMEC	breast
9	chr17:46154200-46177600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr17:46154400-46176800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr17:46154400-46177000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr17:46154400-46177200	Weak transcription	Placenta	Placenta
13	chr17:46154400-46177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:46154400-46177600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr17:46154400-46177600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:46154400-46177600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:46154400-46177600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:46154400-46177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:46154400-46177800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:46154600-46176800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:46154600-46177000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:46154600-46177000	Weak transcription	Osteobl	bone
23	chr17:46154600-46177600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr17:46163400-46177600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr17:46163600-46177200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr17:46163600-46177600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr17:46163800-46176800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr17:46163800-46176800	Weak transcription	Brain Angular Gyrus	brain
29	chr17:46163800-46176800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr17:46163800-46177000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr17:46163800-46177200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr17:46163800-46177600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr17:46163800-46177600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:46163800-46177600	Weak transcription	Stomach Mucosa	stomach
35	chr17:46163800-46177800	Weak transcription	Pancreas	Pancrea
36	chr17:46164000-46177000	Weak transcription	Fetal Lung	lung
37	chr17:46164000-46177200	Weak transcription	Ovary	ovary
38	chr17:46165800-46177000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:46166400-46176800	Weak transcription	HUVEC	blood vessel
40	chr17:46167600-46176800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:46167800-46177200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr17:46171000-46177000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:46171200-46177200	Weak transcription	HSMM	muscle
44	chr17:46171400-46177600	Weak transcription	Adipose Nuclei	Adipose
45	chr17:46171400-46177800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr17:46171800-46177200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:46171800-46177400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr17:46171800-46177600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr17:46171800-46177600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr17:46171800-46177600	Weak transcription	Rectal Mucosa Donor 31	rectum

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