Variant report

Variant	rs972252
Chromosome Location	chr5:99600892-99600893
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1013602	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1125289	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12109911	0.85[ASN][1000 genomes]
rs1504534	1.00[ASN][1000 genomes]
rs1628244	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1677281	0.85[ASN][1000 genomes]
rs1820143	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820144	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1820146	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1841979	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1841980	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841981	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1841982	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1973172	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2134902	0.85[ASN][1000 genomes]
rs2546170	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2546180	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2548206	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2617322	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2617323	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2617324	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2617326	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2655999	0.85[ASN][1000 genomes]
rs709359	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs709360	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766692	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs766693	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs766694	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794989	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794990	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs794991	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794992	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs794993	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs794996	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795670	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795671	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795672	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs795673	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795674	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs795675	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795676	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795677	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs795678	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795679	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs795680	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs795681	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs795684	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs949677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758006	chr5:99207674-99846255	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv2759359	chr5:99207674-99883371	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	esv34624	chr5:99383469-99664527	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1807423	chr5:99385971-99635944	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2757124	chr5:99424756-99883371	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1032625	chr5:99425442-99664628	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1020130	chr5:99428583-99683405	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv471632	chr5:99429213-99601670	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv882446	chr5:99434080-99728990	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv882452	chr5:99438989-99669656	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1031968	chr5:99446627-99610086	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1034711	chr5:99446627-99662421	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv523868	chr5:99458306-99665423	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv599165	chr5:99469004-100063039	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv482414	chr5:99469092-99632939	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1025298	chr5:99477594-99662421	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv537823	chr5:99477594-99662421	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv427726	chr5:99501625-99635944	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv599166	chr5:99507580-99665423	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv1024587	chr5:99515368-99616504	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv432785	chr5:99522748-99614601	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv525989	chr5:99524263-99665423	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv1033565	chr5:99531518-99605059	Enhancers Weak transcription Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv1033936	chr5:99531518-99616504	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv1021223	chr5:99531518-99627127	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv1030532	chr5:99531518-99634772	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv1031661	chr5:99532806-99616504	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv599167	chr5:99533649-99608856	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv432788	chr5:99534096-99614601	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	lncRNA	1 gene(s)	inside rSNPs	diseases
30	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
31	nsv882455	chr5:99534276-99720953	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
32	nsv432789	chr5:99536420-99772825	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
33	nsv1015788	chr5:99545369-99745835	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
34	nsv537824	chr5:99545369-99745835	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
35	nsv1020273	chr5:99545369-99779031	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
36	nsv432790	chr5:99555492-99644635	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv968843	chr5:99558009-99615244	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv599168	chr5:99558792-99745767	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
39	nsv882456	chr5:99559569-99606651	Enhancers Active TSS Flanking Active TSS Weak transcription	lncRNA	1 gene(s)	inside rSNPs	diseases
40	esv2763875	chr5:99581111-99843423	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
41	nsv599169	chr5:99581379-99665423	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
42	nsv432791	chr5:99581524-99755077	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
43	nsv882457	chr5:99596369-99669656	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99600600-99601600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:99600800-99602200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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