Variant report

Variant	rs11656818
Chromosome Location	chr17:46103237-46103238
allele	A/C
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46101739..46105145-chr17:46207358..46210173,3	MCF-7	breast:
2	chr17:46103207..46104778-chr17:46151389..46152380,11	K562	blood:
3	chr17:46101075..46105793-chr17:46203518..46208640,6	MCF-7	breast:
4	chr17:46101220..46105616-chr17:46211133..46214847,5	K562	blood:
5	chr17:46101105..46103600-chr17:46138734..46141619,2	K562	blood:
6	chr17:46100290..46104941-chr17:46183793..46186470,6	MCF-7	breast:
7	chr17:46035894..46038484-chr17:46099628..46103418,4	MCF-7	breast:
8	chr17:46102233..46104443-chr17:46148232..46151120,2	K562	blood:
9	chr17:46102704..46105485-chr17:46150295..46153343,3	MCF-7	breast:
10	chr17:45973640..45975276-chr17:46101393..46103848,2	MCF-7	breast:
11	chr17:46037650..46039403-chr17:46103003..46105504,2	K562	blood:
12	chr17:46102177..46103619-chr17:46151450..46152271,5	MCF-7	breast:
13	chr17:46102745..46105471-chr17:46206069..46210163,5	K562	blood:
14	chr17:46102978..46103598-chr17:46113979..46114735,2	MCF-7	breast:
15	chr17:46102966..46105388-chr17:46145641..46147394,2	K562	blood:
16	chr17:46044123..46046243-chr17:46103230..46105369,2	MCF-7	breast:
17	chr17:46100592..46104586-chr17:46183324..46186520,4	K562	blood:
18	chr17:46102851..46105550-chr17:46199872..46202014,2	MCF-7	breast:
19	chr17:46101312..46103922-chr17:46212522..46214057,2	MCF-7	breast:
20	chr17:46047240..46049948-chr17:46101636..46104344,3	MCF-7	breast:
21	chr11:62607625..62609532-chr17:46102709..46105025,2	K562	blood:
22	chr17:46033388..46035885-chr17:46101144..46103907,2	MCF-7	breast:
23	chr17:46101261..46104972-chr17:46659979..46662985,3	K562	blood:
24	chr17:46102299..46104272-chr17:46156219..46158747,2	MCF-7	breast:
25	chr17:46102851..46105314-chr17:46237154..46238995,2	MCF-7	breast:
26	chr17:46070659..46072225-chr17:46102465..46104720,2	K562	blood:
27	chr17:46101351..46104299-chr17:46183324..46186063,2	K562	blood:
28	chr17:46101917..46105138-chr17:46176105..46179935,5	K562	blood:
29	chr17:46046874..46048813-chr17:46100923..46104280,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000207947	Chromatin interaction
ENSG00000005243	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000141293	Chromatin interaction
ENSG00000108465	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	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10491183	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1051001	0.96[EUR][1000 genomes]
rs11079805	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11651275	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12452399	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28405789	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35091825	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41429650	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7209072	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7210041	0.98[EUR][1000 genomes]
rs9890096	0.87[AFR][1000 genomes];0.94[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	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914123	0.91[AFR][1000 genomes];0.94[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
rs11656818	PNPO	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46100400-46103400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr17:46100400-46103800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:46101400-46103400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr17:46101400-46104200	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr17:46102400-46103400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:46102400-46103400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr17:46102600-46104600	Enhancers	Stomach Mucosa	stomach
8	chr17:46102800-46103400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:46102800-46103400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:46102800-46103400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr17:46102800-46103400	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr17:46102800-46103400	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr17:46102800-46103400	Flanking Active TSS	Colonic Mucosa	Colon
14	chr17:46102800-46103400	Flanking Active TSS	Esophagus	oesophagus
15	chr17:46102800-46103400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr17:46102800-46103400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
17	chr17:46102800-46103400	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr17:46102800-46103400	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr17:46102800-46103400	Flanking Active TSS	Placenta	Placenta
20	chr17:46102800-46103400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr17:46102800-46103400	Flanking Active TSS	GM12878-XiMat	blood
22	chr17:46102800-46103400	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr17:46102800-46103400	Flanking Active TSS	HMEC	breast
24	chr17:46102800-46103400	Flanking Active TSS	HUVEC	blood vessel
25	chr17:46102800-46103400	Flanking Active TSS	K562	blood
26	chr17:46102800-46103600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr17:46102800-46103600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr17:46102800-46103600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr17:46102800-46103800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr17:46102800-46103800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:46102800-46103800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:46102800-46103800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:46102800-46103800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr17:46102800-46103800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr17:46102800-46103800	Flanking Active TSS	NH-A	brain
36	chr17:46102800-46104000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:46102800-46104200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:46102800-46104400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:46102800-46104400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr17:46102800-46104400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr17:46102800-46104400	Flanking Active TSS	NHEK	skin
42	chr17:46102800-46104400	Flanking Active TSS	Osteobl	bone
43	chr17:46102800-46104600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:46102800-46104600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:46102800-46104600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr17:46102800-46104600	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr17:46103000-46103400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
48	chr17:46103000-46103400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr17:46103000-46103400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:46103000-46103400	Flanking Active TSS	Brain Anterior Caudate	brain

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