Variant report

Variant	rs4426926
Chromosome Location	chr5:45994343-45994344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10043248	0.90[ASN][1000 genomes]
rs10043270	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10045812	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10050829	0.82[ASN][1000 genomes]
rs10052339	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10054419	0.90[ASN][1000 genomes]
rs10056889	0.85[ASN][1000 genomes]
rs10059350	0.92[ASN][1000 genomes]
rs10060199	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10062325	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10062508	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10067132	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10067655	0.82[ASN][1000 genomes]
rs10067983	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10079238	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10213756	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10434580	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10941732	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11949490	0.81[AMR][1000 genomes]
rs11957047	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12654375	0.89[ASN][1000 genomes]
rs12657581	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13165481	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13165909	0.94[ASN][1000 genomes]
rs13168838	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13190242	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13354272	0.82[ASN][1000 genomes]
rs13356313	0.85[ASN][1000 genomes]
rs13359665	0.94[ASN][1000 genomes]
rs13362078	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28885449	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34501453	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34812524	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4259174	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4263507	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4274990	0.81[ASN][1000 genomes]
rs4277924	0.81[ASN][1000 genomes]
rs4282325	0.86[ASN][1000 genomes]
rs4289566	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4302598	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4354052	0.86[ASN][1000 genomes]
rs4367307	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4371763	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4383730	0.82[ASN][1000 genomes]
rs4389698	0.83[ASN][1000 genomes]
rs4409106	0.89[ASN][1000 genomes]
rs4428422	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4431354	0.85[ASN][1000 genomes]
rs4441886	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4455568	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4455569	0.80[ASN][1000 genomes]
rs4484447	0.86[ASN][1000 genomes]
rs4489075	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4490592	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4492122	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4492123	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4492125	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4499842	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4501347	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4502836	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4504391	0.90[ASN][1000 genomes]
rs4518411	0.90[ASN][1000 genomes]
rs4541667	0.82[ASN][1000 genomes]
rs4551075	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4569880	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4569881	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4975885	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57299032	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59968174	0.90[ASN][1000 genomes]
rs6451838	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6451841	0.80[EUR][1000 genomes]
rs6451843	0.81[ASN][1000 genomes]
rs71618219	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7442735	0.82[ASN][1000 genomes]
rs7443384	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7443410	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7709131	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7723218	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7727331	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8188026	0.83[EUR][1000 genomes]
rs8188064	0.83[ASN][1000 genomes]
rs8188072	0.81[ASN][1000 genomes]
rs8188173	0.95[ASN][1000 genomes]
rs8188180	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916152	chr5:45273586-46115086	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv462133	chr5:45325915-46287112	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv597980	chr5:45325915-46287112	Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv462136	chr5:45406321-46228333	Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv597984	chr5:45406321-46228333	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv533064	chr5:45414583-46115086	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1034156	chr5:45482635-46224012	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1027861	chr5:45499842-46251306	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv530229	chr5:45506336-46115086	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv597993	chr5:45537299-46265302	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv597995	chr5:45666146-45996902	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv597996	chr5:45669038-46287112	Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1027084	chr5:45675353-46389261	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1033475	chr5:45771908-46250672	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1017290	chr5:45799447-46250672	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv537756	chr5:45799447-46250672	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv916058	chr5:45812550-46115173	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1031477	chr5:45812775-46160642	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv1024533	chr5:45840303-46389261	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv597999	chr5:45854627-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv916433	chr5:45855174-46115173	ZNF genes & repeats Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv462138	chr5:45857129-46287112	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv598000	chr5:45857129-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv598001	chr5:45858842-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv1015811	chr5:45860010-46097753	ZNF genes & repeats Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv1034928	chr5:45860010-46224012	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv916035	chr5:45865994-46115173	ZNF genes & repeats Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv1029040	chr5:45888504-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv526696	chr5:45892788-46348483	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv1030187	chr5:45898541-46199423	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv1035033	chr5:45898541-46389261	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv1020758	chr5:45899779-46389261	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv525143	chr5:45902608-46075957	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
34	nsv1030508	chr5:45904510-46172365	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv1020606	chr5:45904510-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv980561	chr5:45905216-46113101	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv1024568	chr5:45905997-46389261	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv1017177	chr5:45906782-46191872	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv1016946	chr5:45906782-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv1028073	chr5:45906782-46389261	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
41	nsv517108	chr5:45912967-45996902	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a
42	nsv518712	chr5:45912967-46048668	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
43	nsv522234	chr5:45912967-46048668	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
44	nsv1028856	chr5:45916036-46224012	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv1028348	chr5:45916036-46246648	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv1030048	chr5:45916036-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv1030131	chr5:45916036-46271096	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv1023025	chr5:45916036-46389261	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv598002	chr5:45916756-46275684	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv1034884	chr5:45921127-46152428	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4426926	LOC647121	Cis_chr	lymphoblastoid	RTeQTL
rs4426926	PARP8	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45990400-45999400	ZNF genes & repeats	Liver	Liver
2	chr5:45993000-45998800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:45994000-45994600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:45994200-45997200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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