Variant report

Variant	rs7207553
Chromosome Location	chr17:46256727-46256728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46256118..46258738-chr17:46264305..46266525,3	K562	blood:
2	chr17:46255989..46258738-chr17:46265025..46266580,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11079810	0.89[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11079813	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11650476	0.87[EUR][1000 genomes]
rs11650615	0.86[YRI][hapmap]
rs11654292	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11654342	0.84[AMR][1000 genomes]
rs11658242	1.00[CEU][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes]
rs12103808	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1544597	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1975703	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28481675	0.87[EUR][1000 genomes]
rs56258199	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60707285	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60843764	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6504067	1.00[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6504114	1.00[CEU][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes]
rs6504115	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7207937	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7210671	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219844	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7220398	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7221720	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7221897	0.82[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7222646	1.00[CEU][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7224155	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7225288	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322881	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73322886	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73324779	0.87[EUR][1000 genomes]
rs8065797	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes]
rs8067470	1.00[CEU][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes]
rs8071697	1.00[CEU][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8073220	0.93[AMR][1000 genomes]
rs9890850	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9893110	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894076	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9905800	1.00[CEU][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes]
rs9907268	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909922	0.88[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
rs7207553	PNPO	Cis_1M	lymphoblastoid	RTeQTL
rs7207553	RP5-890E16.2	cis	Nerve Tibial	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46247000-46258600	Weak transcription	Primary B cells from cord blood	blood
2	chr17:46251000-46257400	Enhancers	HSMMtube	muscle
3	chr17:46251200-46267200	Strong transcription	Primary T cells from cord blood	blood
4	chr17:46251200-46277400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:46251800-46267400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr17:46252000-46271400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr17:46252600-46257000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:46252600-46271000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr17:46252800-46260200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:46253000-46257600	Strong transcription	Thymus	Thymus
11	chr17:46253000-46260200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:46253200-46270800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr17:46253400-46257400	Enhancers	HSMM	muscle
14	chr17:46253400-46260800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr17:46253600-46259400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:46253600-46267000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:46253800-46266800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr17:46254000-46271000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:46254400-46260400	Strong transcription	Fetal Thymus	thymus
20	chr17:46254400-46266800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr17:46255000-46270800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:46255200-46256800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr17:46255200-46270800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:46255600-46256800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr17:46255600-46257000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr17:46255800-46256800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr17:46255800-46257400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr17:46256000-46260000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr17:46256200-46256800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:46256200-46256800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr17:46256200-46256800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:46256600-46256800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr17:46256600-46256800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:46256600-46257200	Weak transcription	GM12878-XiMat	blood
35	chr17:46256600-46260200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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