Variant report

Variant	rs17048053
Chromosome Location	chr2:56744718-56744719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10490406	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17047944	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17047947	1.00[ASN][1000 genomes]
rs17047958	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17047974	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17048045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17048048	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17048070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17048080	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17048081	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17190247	0.85[CHB][hapmap]
rs17190254	0.82[CHB][hapmap]
rs55773010	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57137764	0.93[ASN][1000 genomes]
rs59437416	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60081466	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717117	1.00[ASN][1000 genomes]
rs6738570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73940703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73940706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73940709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73940710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73940745	0.92[AMR][1000 genomes]
rs73942443	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73942455	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73942456	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7600769	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874172	chr2:56638856-56811749	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2757800	chr2:56659685-56851198	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759052	chr2:56659685-56851198	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2752438	chr2:56700945-56788111	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv874173	chr2:56702495-56761626	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv874174	chr2:56702495-56761998	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv582049	chr2:56702495-56787100	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv582050	chr2:56702495-56854346	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv431091	chr2:56706672-56750249	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2756921	chr2:56706672-56811290	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv582051	chr2:56706758-56902709	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv582053	chr2:56712426-56746631	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv517645	chr2:56712426-56754479	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv582054	chr2:56712426-56754479	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1004996	chr2:56715861-56751574	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv2760648	chr2:56715873-56746524	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1011812	chr2:56716894-56746524	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv9846	chr2:56719890-56751958	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv3380642	chr2:56720448-56747546	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases
20	esv14802	chr2:56720459-56748522	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
21	nsv1005403	chr2:56720874-56746524	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases
22	nsv998102	chr2:56720874-56751574	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv1004015	chr2:56720874-56759719	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	lncRNA	1 gene(s)	inside rSNPs	diseases
24	esv3693313	chr2:56722007-56746631	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
25	nsv433352	chr2:56722007-56746631	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases
26	nsv817962	chr2:56722007-56746631	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases
27	nsv1007421	chr2:56723974-56746524	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases
28	nsv1006619	chr2:56725492-56751574	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv582055	chr2:56727178-56756857	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
30	nsv874175	chr2:56731966-56821883	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	esv34748	chr2:56733863-56750209	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases
32	nsv1007487	chr2:56734799-56746524	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
33	nsv1004726	chr2:56734799-56751574	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
34	nsv874176	chr2:56736097-56821883	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv874177	chr2:56739650-56821883	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
36	nsv874178	chr2:56739650-56839139	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
37	esv3365356	chr2:56740148-56747546	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	inside rSNPs	diseases
38	esv35146	chr2:56741749-56811290	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
39	nsv817973	chr2:56743435-56817927	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	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	chr2:56743400-56745800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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