Variant report

Variant	rs1051001
Chromosome Location	chr17:46137905-46137906
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10491182	0.96[EUR][1000 genomes]
rs10491183	0.96[EUR][1000 genomes]
rs11079805	0.96[EUR][1000 genomes]
rs11650182	0.87[AMR][1000 genomes]
rs11651275	0.88[EUR][1000 genomes]
rs11656818	0.96[EUR][1000 genomes]
rs12452399	0.96[EUR][1000 genomes]
rs17618704	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28405789	0.96[EUR][1000 genomes]
rs35091825	0.96[EUR][1000 genomes]
rs41429650	0.83[EUR][1000 genomes]
rs7209072	0.96[EUR][1000 genomes]
rs7210041	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8078142	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9890096	0.88[EUR][1000 genomes]
rs9895554	0.98[EUR][1000 genomes]
rs9900074	0.98[EUR][1000 genomes]
rs9903963	0.96[EUR][1000 genomes]
rs9914123	0.96[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1051001	PNPO	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46128000-46138000	Genic enhancers	Spleen	Spleen
2	chr17:46128200-46140800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:46130400-46154600	Strong transcription	Primary T cells from cord blood	blood
4	chr17:46130600-46149800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr17:46131000-46145000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:46131200-46154200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:46131400-46151000	Strong transcription	Thymus	Thymus
8	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:46132600-46138000	Enhancers	Right Atrium	heart
11	chr17:46132600-46148000	Strong transcription	Primary hematopoietic stem cells	blood
12	chr17:46132600-46155200	Strong transcription	Fetal Thymus	thymus
13	chr17:46132800-46138200	Genic enhancers	Liver	Liver
14	chr17:46132800-46143800	Strong transcription	Rectal Smooth Muscle	rectum
15	chr17:46132800-46145600	Strong transcription	Fetal Intestine Small	intestine
16	chr17:46133000-46140400	Strong transcription	NHLF	lung
17	chr17:46133000-46144400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr17:46133000-46145000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:46133000-46145600	Strong transcription	Fetal Intestine Large	intestine
20	chr17:46133000-46154600	Strong transcription	Fetal Brain Female	brain
21	chr17:46133000-46155200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:46133200-46138400	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr17:46133200-46139600	Strong transcription	Fetal Lung	lung
24	chr17:46133200-46139800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:46133200-46139800	Strong transcription	Aorta	Aorta
26	chr17:46133200-46139800	Strong transcription	Pancreas	Pancrea
27	chr17:46133200-46140800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr17:46133200-46143400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:46133200-46143600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:46133200-46143800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:46133200-46149400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr17:46133200-46157200	Strong transcription	Fetal Stomach	stomach
33	chr17:46133400-46138000	Strong transcription	Esophagus	oesophagus
34	chr17:46133400-46138400	Strong transcription	Brain Cingulate Gyrus	brain
35	chr17:46133400-46140000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:46133400-46140000	Strong transcription	Brain Substantia Nigra	brain
37	chr17:46133400-46140000	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr17:46133400-46140800	Strong transcription	Colonic Mucosa	Colon
39	chr17:46133400-46141400	Strong transcription	Fetal Muscle Leg	muscle
40	chr17:46133400-46141400	Strong transcription	HepG2	liver
41	chr17:46133400-46142400	Strong transcription	Brain Hippocampus Middle	brain
42	chr17:46133400-46142600	Strong transcription	Colon Smooth Muscle	Colon
43	chr17:46133400-46144400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr17:46133400-46149800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:46133400-46150600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr17:46133400-46151000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr17:46133400-46154400	Strong transcription	Brain Germinal Matrix	brain
48	chr17:46133400-46154400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr17:46133400-46154600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr17:46133400-46155200	Strong transcription	Dnd41	blood

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