Variant report

Variant	rs72782993
Chromosome Location	chr2:34479326-34479327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11888679	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11891597	0.85[EUR][1000 genomes]
rs11894504	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11894585	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11894626	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11894639	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11900172	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11900277	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17014886	0.88[EUR][1000 genomes]
rs4462767	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4484013	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4505502	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4556955	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55939505	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58817163	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72781161	0.82[EUR][1000 genomes]
rs72781162	0.88[EUR][1000 genomes]
rs72782916	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782919	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782920	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782922	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782926	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782928	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782931	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72782938	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782939	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782940	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72782942	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782943	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782944	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782945	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782947	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782951	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782952	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782954	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782956	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782958	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782959	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782961	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782963	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782964	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782965	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782966	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782971	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782972	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782974	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782975	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782977	0.85[AMR][1000 genomes]
rs72782978	0.86[EUR][1000 genomes]
rs72782982	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782983	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72782985	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72782995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72782998	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72783002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72784803	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72784805	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72784813	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72784823	0.80[AMR][1000 genomes]
rs741556	0.90[EUR][1000 genomes]
rs741557	0.90[EUR][1000 genomes]
rs7575593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006001	chr2:33991364-34858721	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv535628	chr2:33991364-34858721	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv873799	chr2:33996983-34821990	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv999091	chr2:34154486-34993188	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv535629	chr2:34154486-34993188	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv873804	chr2:34156867-35047107	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv873808	chr2:34275757-34703057	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv833714	chr2:34348193-34504892	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv873810	chr2:34456200-35047107	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1010274	chr2:34468037-34738307	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv535631	chr2:34468037-34738307	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3357621	chr2:34478198-34480296	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34475600-34480800	Enhancers	Fetal Intestine Small	intestine
2	chr2:34477600-34479400	Weak transcription	Fetal Lung	lung
3	chr2:34478400-34479600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:34478400-34480800	Enhancers	Fetal Intestine Large	intestine
5	chr2:34478600-34479800	Enhancers	Fetal Kidney	kidney
6	chr2:34479200-34479400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:34479200-34479400	Enhancers	Pancreas	Pancrea
8	chr2:34479200-34480400	Enhancers	Liver	Liver

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