Variant report

Variant	rs9914123
Chromosome Location	chr17:46100871-46100872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46100290..46104941-chr17:46183793..46186470,6	MCF-7	breast:
2	chr17:46035894..46038484-chr17:46099628..46103418,4	MCF-7	breast:
3	chr17:46029177..46031751-chr17:46099712..46102366,3	MCF-7	breast:
4	chr17:46072676..46074686-chr17:46100526..46102063,2	MCF-7	breast:
5	chr17:45971488..45974794-chr17:46097865..46101201,4	MCF-7	breast:
6	chr17:45960557..45963296-chr17:46100830..46102768,2	MCF-7	breast:
7	chr17:46024703..46026313-chr17:46100514..46102260,2	MCF-7	breast:
8	chr17:46100592..46104586-chr17:46183324..46186520,4	K562	blood:
9	chr17:46094604..46097136-chr17:46099608..46102510,2	K562	blood:
10	chr17:46095774..46097363-chr17:46099582..46101725,2	MCF-7	breast:
11	chr17:46099610..46101884-chr17:46177482..46179421,2	MCF-7	breast:
12	chr17:46098397..46101046-chr17:46137783..46139576,2	K562	blood:
13	chr17:46037638..46039949-chr17:46100422..46103113,2	MCF-7	breast:
14	chr17:46100824..46102860-chr17:46184940..46187814,2	MCF-7	breast:
15	chr17:45771705..45773582-chr17:46099027..46101525,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167182	Chromatin interaction
ENSG00000266341	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000264701	Chromatin interaction
ENSG00000198933	Chromatin interaction
ENSG00000264019	Chromatin interaction
ENSG00000264920	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10491182	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10491183	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1051001	0.96[EUR][1000 genomes]
rs11079805	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11651275	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11656818	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12452399	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28405789	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35091825	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41429650	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7209072	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7210041	0.98[EUR][1000 genomes]
rs9890096	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9895554	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9900074	0.98[EUR][1000 genomes]
rs9903963	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[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
rs9914123	PNPO	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46094000-46101600	Weak transcription	K562	blood
2	chr17:46099800-46101000	Enhancers	NHEK	skin
3	chr17:46100200-46101200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
4	chr17:46100400-46101000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:46100400-46101000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:46100400-46101000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr17:46100400-46101000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr17:46100400-46101000	Enhancers	Liver	Liver
9	chr17:46100400-46101000	Enhancers	Fetal Heart	heart
10	chr17:46100400-46101600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:46100400-46101600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr17:46100400-46101600	Bivalent Enhancer	Fetal Lung	lung
13	chr17:46100400-46101800	Enhancers	Stomach Mucosa	stomach
14	chr17:46100400-46103400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr17:46100400-46103800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:46100600-46101000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr17:46100600-46101000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr17:46100600-46101000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:46100600-46101000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:46100600-46101000	Bivalent Enhancer	Fetal Intestine Small	intestine
21	chr17:46100600-46101200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr17:46100600-46101400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr17:46100600-46101400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr17:46100600-46101400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:46100600-46101600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr17:46100600-46101600	Active TSS	A549	lung
27	chr17:46100600-46101600	Active TSS	Hela-S3	cervix
28	chr17:46100600-46102000	Bivalent Enhancer	Fetal Brain Male	brain
29	chr17:46100600-46102000	Flanking Bivalent TSS/Enh	Thymus	Thymus
30	chr17:46100600-46102200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr17:46100600-46102600	Flanking Bivalent TSS/Enh	HepG2	liver
32	chr17:46100600-46103000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr17:46100600-46103200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:46100800-46101000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr17:46100800-46101000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr17:46100800-46101000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr17:46100800-46101000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:46100800-46101000	Enhancers	Primary B cells from cord blood	blood
39	chr17:46100800-46101000	Enhancers	Primary hematopoietic stem cells	blood
40	chr17:46100800-46101000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:46100800-46101000	Active TSS	Brain Hippocampus Middle	brain
42	chr17:46100800-46101000	Active TSS	Colon Smooth Muscle	Colon
43	chr17:46100800-46101000	Flanking Active TSS	Fetal Brain Female	brain
44	chr17:46100800-46101000	Enhancers	HMEC	breast
45	chr17:46100800-46101200	Active TSS	H1 Cell Line	embryonic stem cell
46	chr17:46100800-46101200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:46100800-46101200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:46100800-46101200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:46100800-46101200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:46100800-46101200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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