Variant report

Variant	rs7524742
Chromosome Location	chr1:155605735-155605736
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	chr1:155605649..155607363-chr1:155609157..155610768,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2136918	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2175390	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2686266	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348187	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348195	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs348198	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs487216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4971053	1.00[MEX][hapmap]
rs4971094	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4971096	0.96[AFR][1000 genomes]
rs4971098	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525240	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs536192	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs589431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs602905	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs651905	0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs662116	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675983	0.95[AFR][1000 genomes]
rs7535114	1.00[MEX][hapmap]
rs9427221	0.82[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv3043	chr1:155574054-155608574	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
12	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7524742	PAQR6	cis	lymphoblastoid	seeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155583200-155605800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:155583400-155605800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:155583800-155605800	Weak transcription	Primary T cells from cord blood	blood
4	chr1:155595000-155613000	Weak transcription	Osteobl	bone
5	chr1:155595600-155607000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:155596200-155605800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:155603000-155611400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:155605000-155618000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:155605400-155613000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:155605600-155605800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:155605600-155605800	Enhancers	Dnd41	blood
12	chr1:155605600-155605800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:155605600-155606000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:155605600-155606000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:155605600-155606000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:155605600-155606000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:155605600-155606000	Enhancers	Duodenum Mucosa	Duodenum
18	chr1:155605600-155606200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:155605600-155606200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:155605600-155606200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:155605600-155606200	Enhancers	NHEK	skin
22	chr1:155605600-155606400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:155605600-155606400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:155605600-155606400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:155605600-155606400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:155605600-155606400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:155605600-155606400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:155605600-155606400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:155605600-155606400	Enhancers	Liver	Liver
30	chr1:155605600-155606600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:155605600-155606600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:155605600-155606600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:155605600-155606600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:155605600-155606600	Enhancers	A549	lung
35	chr1:155605600-155606800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr1:155605600-155606800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:155605600-155606800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:155605600-155606800	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:155605600-155607000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:155605600-155607000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:155605600-155607000	Enhancers	Placenta	Placenta
42	chr1:155605600-155607000	Enhancers	K562	blood
43	chr1:155605600-155607400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:155605600-155607400	Enhancers	HepG2	liver

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