Variant report

Variant	rs319848
Chromosome Location	chr2:115541280-115541281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10180031	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10188948	0.90[ASN][1000 genomes]
rs10514813	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1519668	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1519669	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1996620	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2574111	0.94[ASN][1000 genomes]
rs319845	0.81[EUR][1000 genomes]
rs319846	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs319847	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319849	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs319850	0.88[ASN][1000 genomes]
rs319851	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs319852	0.89[ASN][1000 genomes]
rs319855	0.89[AFR][1000 genomes]
rs6542221	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6542223	0.93[ASN][1000 genomes]
rs7568289	0.89[ASN][1000 genomes]
rs7585051	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv431502	chr2:115139566-115617936	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv582715	chr2:115495142-115573499	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv459019	chr2:115495142-115599013	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv874910	chr2:115515053-115543018	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv874911	chr2:115515053-115554390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv874913	chr2:115516080-115542869	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv437513	chr2:115520205-115543018	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv874915	chr2:115520205-115554390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv1001709	chr2:115530458-115546549	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
11	nsv1012784	chr2:115530841-115542382	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
12	nsv1013097	chr2:115530841-115542778	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
13	nsv582716	chr2:115532886-115542066	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
14	esv3459742	chr2:115534843-115542521	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
15	esv3459743	chr2:115534972-115542402	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
16	nsv582718	chr2:115535141-115541722	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
17	nsv582719	chr2:115535141-115542066	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
18	nsv582720	chr2:115535141-115542869	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
19	nsv526597	chr2:115535141-115543018	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
20	esv2763566	chr2:115535914-115542790	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
21	esv1798795	chr2:115536316-115542070	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
22	esv1812495	chr2:115536316-115542070	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
23	esv1828118	chr2:115536316-115542070	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
24	esv1840794	chr2:115536316-115542070	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
25	nsv441776	chr2:115536316-115542070	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
26	nsv514086	chr2:115536410-115542010	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
27	nsv582723	chr2:115536791-115541516	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
28	nsv582724	chr2:115536791-115542066	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
29	nsv582725	chr2:115537749-115541516	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
30	nsv582726	chr2:115537749-115542066	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
31	nsv582727	chr2:115538962-115542066	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
32	nsv1001980	chr2:115539567-115551331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115539600-115541400	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:115539800-115545000	Weak transcription	Brain Substantia Nigra	brain
3	chr2:115539800-115547000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:115541200-115541600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:115541200-115541600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:115541200-115541800	Enhancers	Pancreas	Pancrea

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