Variant report

Variant	rs7175329
Chromosome Location	chr15:73415881-73415882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10048053	0.82[ASN][1000 genomes]
rs1023924	0.86[CHD][hapmap]
rs1038137	0.83[JPT][hapmap]
rs10438294	0.81[CHD][hapmap];0.89[GIH][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap]
rs10467948	0.83[JPT][hapmap]
rs10467949	0.91[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1131854	0.89[CHB][hapmap];0.91[CHD][hapmap];0.80[GIH][hapmap];0.87[MEX][hapmap]
rs11632639	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11636241	0.89[CHB][hapmap]
rs11639213	0.89[CHB][hapmap]
rs11856922	0.94[ASN][1000 genomes]
rs12050774	0.83[CHD][hapmap]
rs12050848	0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs12708506	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs12899246	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12902768	0.83[CHB][hapmap]
rs12907139	0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs12916928	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1479337	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1479340	0.83[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs1564345	0.83[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs17762516	0.84[ASN][1000 genomes]
rs17762600	0.86[CHD][hapmap]
rs17829830	0.86[CHD][hapmap]
rs17829836	0.85[ASN][1000 genomes]
rs1871385	0.83[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap]
rs2010793	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2046017	0.94[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.84[ASN][1000 genomes]
rs2127277	0.83[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs2169951	0.83[JPT][hapmap]
rs2251205	0.94[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]
rs2415147	0.83[CHB][hapmap]
rs28481558	0.94[ASN][1000 genomes]
rs28743094	0.94[ASN][1000 genomes]
rs28842482	0.95[ASN][1000 genomes]
rs2899784	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs35060813	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3736510	0.83[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap]
rs3743489	0.88[CHB][hapmap]
rs3784793	0.92[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs4132535	1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4132536	0.83[CHD][hapmap];0.83[JPT][hapmap]
rs4776630	0.81[ASN][1000 genomes]
rs4777582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4777583	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4777589	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4777590	0.86[CHD][hapmap];0.83[JPT][hapmap]
rs4777591	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56157337	0.83[ASN][1000 genomes]
rs58060856	0.85[ASN][1000 genomes]
rs62017779	0.82[ASN][1000 genomes]
rs6416501	0.94[ASN][1000 genomes]
rs6416502	0.94[ASN][1000 genomes]
rs6495047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7164894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7168555	0.85[CHB][hapmap]
rs7169083	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs7172021	0.83[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs7172396	0.82[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs7173142	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs747872	0.83[CHB][hapmap]
rs747873	0.82[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap]
rs7495458	0.94[ASN][1000 genomes]
rs8026121	0.83[JPT][hapmap]
rs8026579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8027588	0.89[CHB][hapmap];0.94[CHD][hapmap];0.80[GIH][hapmap];0.87[MEX][hapmap]
rs8029106	0.82[ASN][1000 genomes]
rs8035063	0.83[ASN][1000 genomes]
rs8042700	0.83[CHB][hapmap]
rs922516	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9672588	0.88[CHB][hapmap]
rs9806496	0.84[ASN][1000 genomes]
rs9920186	1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv482421	chr15:73279141-73426897	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv517966	chr15:73349633-73488753	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv525462	chr15:73349633-73563495	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv904339	chr15:73375847-73483718	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv904340	chr15:73375847-73524629	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv904341	chr15:73390790-73483718	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv904342	chr15:73390790-73524629	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7175329	PAQR5	cis	cerebellum	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73388800-73431200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:73393200-73422400	Weak transcription	Aorta	Aorta
3	chr15:73396400-73444600	Weak transcription	Psoas Muscle	Psoas
4	chr15:73400400-73434200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:73401200-73423000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:73401200-73428200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:73401400-73419600	Weak transcription	Brain Angular Gyrus	brain
8	chr15:73401400-73422400	Weak transcription	Pancreas	Pancrea
9	chr15:73401400-73422800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:73401400-73480200	Weak transcription	Right Ventricle	heart
11	chr15:73403000-73443400	Weak transcription	Fetal Kidney	kidney
12	chr15:73404200-73425800	Weak transcription	Small Intestine	intestine
13	chr15:73404200-73442600	Weak transcription	Left Ventricle	heart
14	chr15:73406600-73422400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:73406600-73423200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:73406600-73425200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:73406600-73432600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:73406800-73418600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:73406800-73419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:73407400-73431600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:73408000-73443400	Weak transcription	Adipose Nuclei	Adipose
22	chr15:73408800-73424600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:73409200-73422800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:73409200-73429200	Weak transcription	Esophagus	oesophagus
25	chr15:73410000-73418800	Weak transcription	Brain Anterior Caudate	brain
26	chr15:73410600-73434600	Weak transcription	Liver	Liver
27	chr15:73410800-73431400	Weak transcription	Colon Smooth Muscle	Colon
28	chr15:73412600-73417600	Weak transcription	Brain Germinal Matrix	brain
29	chr15:73413200-73416600	Strong transcription	Fetal Lung	lung
30	chr15:73413200-73437200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:73413400-73434200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:73413600-73416400	Weak transcription	Lung	lung
33	chr15:73413600-73446400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr15:73413800-73418000	Weak transcription	Fetal Brain Male	brain
35	chr15:73414000-73428200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:73414000-73437000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:73414000-73440000	Weak transcription	Fetal Brain Female	brain
38	chr15:73414200-73419400	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:73414200-73428600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:73414200-73445600	Weak transcription	Brain Substantia Nigra	brain
41	chr15:73414400-73458200	Weak transcription	Colonic Mucosa	Colon
42	chr15:73414600-73417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:73414600-73417200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:73414600-73419800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:73414600-73436600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:73414800-73416000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:73414800-73416000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:73414800-73416600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:73414800-73416600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr15:73414800-73416600	Strong transcription	Fetal Muscle Leg	muscle

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