Variant report

Variant	rs4947808
Chromosome Location	chr7:53554532-53554533
allele	A/G
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:21)

rs_ID	r²[population]
rs10081311	0.81[ASN][1000 genomes]
rs10227723	0.81[ASN][1000 genomes]
rs10230418	0.82[EUR][1000 genomes]
rs10231055	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10250977	0.82[EUR][1000 genomes]
rs10271450	0.85[AFR][1000 genomes]
rs10275678	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11769940	0.82[EUR][1000 genomes]
rs12670111	0.81[ASN][1000 genomes]
rs2081394	0.81[ASN][1000 genomes]
rs2216911	0.90[AFR][1000 genomes]
rs2216914	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2330524	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2330525	0.81[ASN][1000 genomes]
rs3919595	0.81[ASN][1000 genomes]
rs4078760	0.81[ASN][1000 genomes]
rs4947810	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6593085	0.82[EUR][1000 genomes]
rs6961107	0.81[ASN][1000 genomes]
rs7458376	0.81[ASN][1000 genomes]
rs890045	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888034	chr7:53026365-53611898	Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1017269	chr7:53142462-53605487	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv538846	chr7:53142462-53605487	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv888039	chr7:53232207-53611898	Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1024141	chr7:53261344-53573135	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv607010	chr7:53262051-53570145	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv888040	chr7:53360479-53602556	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv888041	chr7:53438252-53590250	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv607011	chr7:53450856-53590250	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv888042	chr7:53454328-53602556	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv464451	chr7:53454892-53590250	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv464452	chr7:53454892-53590250	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv607012	chr7:53454892-53590250	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1015926	chr7:53455603-53593587	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv888043	chr7:53456941-53590250	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv888044	chr7:53456941-53602556	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	esv2764048	chr7:53458853-53590747	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv470233	chr7:53460685-53590250	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv516296	chr7:53460686-53590250	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv464453	chr7:53460686-53590250	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv464454	chr7:53460686-53590250	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv464455	chr7:53460686-53590250	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv464456	chr7:53460686-53590250	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv607013	chr7:53460686-53590250	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv888045	chr7:53460686-53602556	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv607014	chr7:53460686-53606938	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	esv32580	chr7:53461067-53583154	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv1026315	chr7:53466013-53587986	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
29	nsv1028981	chr7:53466013-53590735	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
30	nsv1033929	chr7:53466013-53593587	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
31	nsv1016248	chr7:53466013-53595615	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
32	nsv1016481	chr7:53466145-53587472	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
33	nsv538849	chr7:53466145-53587472	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
34	nsv1021399	chr7:53466145-53600829	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
35	nsv464457	chr7:53467605-53590250	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
36	nsv464458	chr7:53467605-53590250	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
37	nsv607015	chr7:53467605-53590250	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
38	nsv464459	chr7:53467723-53590250	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
39	nsv607016	chr7:53467723-53590250	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
40	nsv1026944	chr7:53470318-53577293	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
41	nsv1027256	chr7:53470318-53587472	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
42	nsv538850	chr7:53470318-53587472	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
43	nsv1025919	chr7:53470557-53590735	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
44	esv2752159	chr7:53475657-53587791	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
45	nsv607017	chr7:53490161-53590250	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
46	nsv464460	chr7:53490827-53590250	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
47	nsv464462	chr7:53490827-53590250	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
48	nsv607018	chr7:53490827-53590250	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
49	nsv607019	chr7:53502556-53590250	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
50	nsv607020	chr7:53518860-53583058	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53553800-53557800	Weak transcription	Fetal Muscle Leg	muscle

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