Variant report

Variant	rs17048057
Chromosome Location	chr2:56749065-56749066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17047928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17047929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17048291	1.00[EUR][1000 genomes]
rs55798719	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56349340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57548646	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940707	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940746	1.00[AMR][1000 genomes]
rs73942405	1.00[EUR][1000 genomes]
rs73942438	1.00[AMR][1000 genomes]
rs73942439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73942440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73942442	1.00[AMR][1000 genomes]
rs73942452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73942453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	nsv517645	chr2:56712426-56754479	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv582054	chr2:56712426-56754479	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1004996	chr2:56715861-56751574	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv9846	chr2:56719890-56751958	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv998102	chr2:56720874-56751574	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1004015	chr2:56720874-56759719	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv1006619	chr2:56725492-56751574	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv582055	chr2:56727178-56756857	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
20	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
21	esv34748	chr2:56733863-56750209	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases
22	nsv1004726	chr2:56734799-56751574	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
23	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
24	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
25	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
26	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
27	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
28	esv3408988	chr2:56746148-56749446	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56746600-56749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:56747400-56749600	Weak transcription	HSMM	muscle
3	chr2:56747400-56749800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:56747800-56749800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:56748000-56750200	Weak transcription	Adipose Nuclei	Adipose
6	chr2:56748800-56752600	Enhancers	Fetal Heart	heart

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