Variant report

Variant	rs13173378
Chromosome Location	chr5:46141422-46141423
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs13153981	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13154480	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13155164	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13155239	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13155776	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13160456	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13163135	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13163445	0.80[AMR][1000 genomes]
rs13163911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13164360	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13167286	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13167960	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13168183	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13170229	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13172144	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13188005	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13188387	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34107066	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34176032	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34210565	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34321815	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34399231	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34474481	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34520364	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34791871	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35025540	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35047596	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35172773	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35216453	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35337274	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35342043	0.80[AMR][1000 genomes]
rs35418425	0.80[AMR][1000 genomes]
rs35436965	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35446235	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35481376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35521134	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35532534	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35763548	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35772263	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35780895	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35888179	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35951833	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36094531	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36125171	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71612321	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71612328	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71620148	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71620151	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71620154	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71620156	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71620157	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71620158	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8185265	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1033475	chr5:45771908-46250672	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1017290	chr5:45799447-46250672	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv537756	chr5:45799447-46250672	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1031477	chr5:45812775-46160642	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	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
15	nsv597999	chr5:45854627-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv462138	chr5:45857129-46287112	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv598000	chr5:45857129-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv598001	chr5:45858842-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv1034928	chr5:45860010-46224012	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv1029040	chr5:45888504-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	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
22	nsv1030187	chr5:45898541-46199423	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	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
24	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
25	nsv1030508	chr5:45904510-46172365	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv1020606	chr5:45904510-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
27	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
28	nsv1017177	chr5:45906782-46191872	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1016946	chr5:45906782-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	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
31	nsv1028856	chr5:45916036-46224012	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv1028348	chr5:45916036-46246648	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv1030048	chr5:45916036-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv1030131	chr5:45916036-46271096	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
35	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
36	nsv598002	chr5:45916756-46275684	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv1034884	chr5:45921127-46152428	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv1015624	chr5:45921127-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv1034474	chr5:45921127-46389261	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv1017281	chr5:45922311-46389261	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
41	nsv1025907	chr5:45931038-46389261	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv1027296	chr5:45939287-46389261	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv1034078	chr5:45953688-46199423	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv1023719	chr5:45953688-46246648	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv1024938	chr5:45953688-46251306	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv1033036	chr5:45953688-46334867	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv1023770	chr5:45953688-46389261	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv1032778	chr5:45962084-46172365	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv1034167	chr5:45962084-46334867	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv1034032	chr5:45973436-46251306	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13173378	LOC647121	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46140800-46144000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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