Variant report

Variant	rs7293312
Chromosome Location	chr5:49458913-49458914
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10054827	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10067381	0.85[EUR][1000 genomes]
rs10471767	0.89[EUR][1000 genomes]
rs10471784	0.85[EUR][1000 genomes]
rs10940090	0.86[EUR][1000 genomes]
rs10940514	0.85[EUR][1000 genomes]
rs10940520	0.85[EUR][1000 genomes]
rs10940533	0.85[EUR][1000 genomes]
rs10940646	0.86[EUR][1000 genomes]
rs11747651	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11748483	0.87[EUR][1000 genomes]
rs11950947	0.83[EUR][1000 genomes]
rs11953016	0.83[EUR][1000 genomes]
rs12188257	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12513792	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12515555	0.85[EUR][1000 genomes]
rs12521033	0.80[EUR][1000 genomes]
rs12521903	0.85[EUR][1000 genomes]
rs13160767	0.88[EUR][1000 genomes]
rs13175165	0.84[EUR][1000 genomes]
rs2199093	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4250105	0.80[EUR][1000 genomes]
rs4250165	0.82[EUR][1000 genomes]
rs4379243	0.86[EUR][1000 genomes]
rs4415115	0.85[EUR][1000 genomes]
rs4865549	0.80[EUR][1000 genomes]
rs4865551	0.82[EUR][1000 genomes]
rs4865728	0.81[EUR][1000 genomes]
rs4865799	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4865801	0.89[EUR][1000 genomes]
rs4865803	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4866006	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7293410	0.89[EUR][1000 genomes]
rs7293422	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8185119	0.85[EUR][1000 genomes]
rs8188146	0.85[EUR][1000 genomes]
rs8188289	0.88[EUR][1000 genomes]
rs9688065	0.86[EUR][1000 genomes]
rs9688258	0.86[EUR][1000 genomes]
rs9800133	0.84[EUR][1000 genomes]
rs9800135	0.82[EUR][1000 genomes]
rs9800240	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv19415	chr5:49405763-49485157	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
2	nsv820439	chr5:49405763-49552643	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv15107	chr5:49405763-49562327	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2760950	chr5:49432831-49624358	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv598089	chr5:49441601-49547088	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv598090	chr5:49441966-49514368	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
7	nsv598091	chr5:49441966-49547088	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv830285	chr5:49445361-49527825	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv598092	chr5:49448027-49514368	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv598093	chr5:49455285-49547088	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1027715	chr5:49455624-49459042	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
12	nsv1025445	chr5:49455624-49459523	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
13	nsv1026319	chr5:49455624-49464294	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
14	nsv1021169	chr5:49455624-49475620	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
15	nsv1017236	chr5:49455624-49481172	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
16	nsv1019538	chr5:49455624-49496963	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
17	nsv1020830	chr5:49455624-49502244	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
18	nsv1032680	chr5:49455624-49521580	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv1029710	chr5:49455624-49526015	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1034318	chr5:49455624-49542837	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1028131	chr5:49455624-49552686	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1017682	chr5:49455624-49556126	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv1033820	chr5:49455624-49560281	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1025722	chr5:49455624-49561216	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv1016253	chr5:49455624-49564818	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv1034447	chr5:49455624-49568948	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1015794	chr5:49455624-49572706	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv1021120	chr5:49455624-49583553	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1034906	chr5:49455624-49586503	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv1016533	chr5:49455624-49587789	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv1033970	chr5:49455624-49595874	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv1032046	chr5:49455624-49597527	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv1021477	chr5:49455624-49624358	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv1019539	chr5:49455624-49702736	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
35	nsv1023402	chr5:49455624-49708458	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
36	nsv1032003	chr5:49455624-49881491	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
37	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
38	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7293312	EMB	cis	Skin Sun Exposed Lower leg	GTEx
rs7293312	EMB	cis	Thyroid	GTEx
rs7293312	EMB	cis	Whole Blood	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49457000-49459000	Enhancers	Dnd41	blood
2	chr5:49458000-49464400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr5:49458200-49464400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr5:49458400-49460400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:49458600-49460200	Weak transcription	HUVEC	blood vessel

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