Variant report

Variant	rs11651275
Chromosome Location	chr17:46098780-46098781
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46097069..46099255-chr17:46124273..46125905,2	MCF-7	breast:
2	chr17:45971488..45974794-chr17:46097865..46101201,4	MCF-7	breast:
3	chr17:46091408..46093930-chr17:46096491..46098890,2	MCF-7	breast:
4	chr17:46098397..46101046-chr17:46137783..46139576,2	K562	blood:
5	chr17:46054433..46057205-chr17:46098030..46099553,2	K562	blood:

Variant related genes	Relation type
ENSG00000264920	Chromatin interaction
ENSG00000266341	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000167182	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10491182	1.00[CEU][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10491183	1.00[CEU][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1051001	0.88[EUR][1000 genomes]
rs11079805	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11650043	1.00[CEU][hapmap]
rs11656818	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12051	0.95[YRI][hapmap]
rs12452399	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16969990	1.00[CEU][hapmap]
rs17617360	1.00[CEU][hapmap]
rs17618704	1.00[CEU][hapmap]
rs17679445	1.00[CEU][hapmap]
rs28405789	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35091825	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41429650	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7209072	1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7210041	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9890096	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9895554	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9900074	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9903963	1.00[CEU][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9914123	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[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
rs11651275	PNPO	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46090200-46100400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr17:46090200-46100400	Weak transcription	Brain Substantia Nigra	brain
3	chr17:46090400-46100800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:46092600-46100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:46092600-46100800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:46092600-46100800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:46092800-46100200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:46092800-46100400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr17:46092800-46100600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:46092800-46100600	Weak transcription	Fetal Brain Female	brain
11	chr17:46093800-46100600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:46094000-46100400	Weak transcription	HSMM	muscle
13	chr17:46094000-46101600	Weak transcription	K562	blood
14	chr17:46095800-46098800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:46095800-46100200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:46095800-46100200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:46095800-46100200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:46095800-46100400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:46095800-46100400	Weak transcription	A549	lung
20	chr17:46095800-46100600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:46095800-46100600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr17:46095800-46100600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:46096000-46100400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr17:46096000-46100600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:46098000-46098800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr17:46098200-46100800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr17:46098600-46099000	Enhancers	HSMMtube	muscle
28	chr17:46098600-46100200	Enhancers	Primary neutrophils fromperipheralblood	blood

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