Variant report

Variant	rs7210671
Chromosome Location	chr17:46253470-46253471
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46240659..46244208-chr17:46251439..46255142,4	MCF-7	breast:
2	chr17:46252245..46255136-chr17:46259026..46261295,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11079810	0.89[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11079813	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11650476	0.87[EUR][1000 genomes]
rs11650615	0.92[YRI][hapmap]
rs11654292	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11654342	0.84[AMR][1000 genomes]
rs11658242	1.00[CEU][hapmap];1.00[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];1.00[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];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6504114	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes]
rs6504115	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7207553	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7207937	0.82[AMR][1000 genomes];0.87[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];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7224155	1.00[CEU][hapmap];1.00[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];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs8067470	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs8071697	1.00[CEU][hapmap];1.00[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];1.00[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]
rs9895554	0.83[YRI][hapmap]
rs9900074	0.88[YRI][hapmap]
rs9905800	1.00[CEU][hapmap];1.00[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
rs7210671	RP5-890E16.2	cis	Nerve Tibial	GTEx
rs7210671	PNPO	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46239200-46253800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr17:46247000-46258600	Weak transcription	Primary B cells from cord blood	blood
3	chr17:46247800-46254400	Weak transcription	Fetal Thymus	thymus
4	chr17:46250200-46255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:46251000-46257400	Enhancers	HSMMtube	muscle
6	chr17:46251200-46253600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:46251200-46254400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr17:46251200-46267200	Strong transcription	Primary T cells from cord blood	blood
9	chr17:46251200-46277400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:46251800-46253600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:46251800-46254200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:46251800-46256000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:46251800-46267400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr17:46252000-46271400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:46252200-46253800	Genic enhancers	GM12878-XiMat	blood
16	chr17:46252200-46254600	Enhancers	Osteobl	bone
17	chr17:46252400-46254000	Enhancers	Primary hematopoietic stem cells	blood
18	chr17:46252400-46254200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:46252400-46254200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr17:46252400-46254600	Enhancers	NH-A	brain
21	chr17:46252600-46257000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:46252600-46271000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:46252800-46260200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:46253000-46253800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:46253000-46253800	Enhancers	HMEC	breast
26	chr17:46253000-46253800	Enhancers	NHDF-Ad	bronchial
27	chr17:46253000-46254600	Enhancers	Fetal Muscle Leg	muscle
28	chr17:46253000-46257600	Strong transcription	Thymus	Thymus
29	chr17:46253000-46260200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:46253200-46253600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:46253200-46253800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:46253200-46254000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:46253200-46270800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr17:46253400-46253600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:46253400-46254000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:46253400-46255000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr17:46253400-46257400	Enhancers	HSMM	muscle
38	chr17:46253400-46260800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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