Variant report

Variant	rs2216047
Chromosome Location	chr7:12358561-12358562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12353391..12355072-chr7:12357011..12359494,3	K562	blood:
2	chr7:12351255..12355072-chr7:12355211..12359779,5	K562	blood:
3	chr7:12356830..12359604-chr7:12404989..12406571,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs2192831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2192832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2356164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2356165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2356171	1.00[AMR][1000 genomes]
rs55638440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55664102	0.82[AFR][1000 genomes]
rs55717500	0.87[AFR][1000 genomes]
rs55802346	1.00[AFR][1000 genomes]
rs55838066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56038003	1.00[AFR][1000 genomes]
rs56212920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57050876	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57429766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57550043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58125710	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58430103	0.93[AFR][1000 genomes]
rs58464800	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58848722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59138526	0.93[AFR][1000 genomes]
rs60783223	0.92[AFR][1000 genomes]
rs60928801	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60964090	0.81[AFR][1000 genomes]
rs61225902	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61248493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61275641	0.90[AFR][1000 genomes]
rs61386156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61394799	0.93[AFR][1000 genomes]
rs61600346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6460922	1.00[AFR][1000 genomes]
rs6460924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6945246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6945314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6945324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6945330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6952189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6959148	0.82[AFR][1000 genomes]
rs6959441	0.95[AFR][1000 genomes]
rs6959444	0.95[AFR][1000 genomes]
rs6965649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6969789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6977409	0.92[AFR][1000 genomes]
rs6979296	0.90[AFR][1000 genomes]
rs6979460	0.98[AFR][1000 genomes]
rs6979661	0.95[AFR][1000 genomes]
rs73677581	0.83[AFR][1000 genomes]
rs73677582	0.85[AFR][1000 genomes]
rs73677583	0.85[AFR][1000 genomes]
rs73677585	0.83[AFR][1000 genomes]
rs73677586	0.90[AFR][1000 genomes]
rs73677587	0.90[AFR][1000 genomes]
rs73677589	0.90[AFR][1000 genomes]
rs73677590	0.90[AFR][1000 genomes]
rs73677598	0.90[AFR][1000 genomes]
rs73677602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679912	1.00[AMR][1000 genomes]
rs73679914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679917	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679921	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679932	1.00[AFR][1000 genomes]
rs73679934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679941	1.00[AFR][1000 genomes]
rs73679943	1.00[AFR][1000 genomes]
rs73679945	1.00[AFR][1000 genomes]
rs73679947	1.00[AFR][1000 genomes]
rs73679948	1.00[AFR][1000 genomes]
rs73679949	0.98[AFR][1000 genomes]
rs73679950	0.98[AFR][1000 genomes]
rs73679951	0.98[AFR][1000 genomes]
rs73679952	0.98[AFR][1000 genomes]
rs73679953	0.98[AFR][1000 genomes]
rs73679957	0.87[AFR][1000 genomes]
rs73679959	0.92[AFR][1000 genomes]
rs73679961	0.98[AFR][1000 genomes]
rs73679962	0.98[AFR][1000 genomes]
rs73679963	0.98[AFR][1000 genomes]
rs73679964	0.98[AFR][1000 genomes]
rs73679965	0.95[AFR][1000 genomes]
rs73679966	0.89[AFR][1000 genomes]
rs73679967	1.00[AFR][1000 genomes]
rs73679968	0.93[AFR][1000 genomes]
rs73679969	1.00[AFR][1000 genomes]
rs73679970	0.93[AFR][1000 genomes]
rs73679972	0.93[AFR][1000 genomes]
rs73679973	1.00[AFR][1000 genomes]
rs73679976	1.00[AFR][1000 genomes]
rs73680913	0.90[AFR][1000 genomes]
rs73680919	0.90[AFR][1000 genomes]
rs73680924	0.90[AFR][1000 genomes]
rs73680950	0.81[AFR][1000 genomes]
rs7779965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7792103	0.95[AFR][1000 genomes]
rs7798838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7798867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7810598	0.85[AFR][1000 genomes]
rs7811632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7811810	1.00[AFR][1000 genomes];1.00[AMR][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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv887629	chr7:12304555-12400837	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019021	chr7:12310445-12375516	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv887630	chr7:12323757-12400837	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1034059	chr7:12342549-12367818	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1029941	chr7:12351595-12444490	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv433030	chr7:12352210-12443042	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1034475	chr7:12352210-12444490	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1029098	chr7:12354108-12443042	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12338400-12359200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:12339600-12360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:12351000-12367600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:12352200-12360600	Weak transcription	K562	blood
5	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:12354800-12364800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:12357200-12358600	Weak transcription	Fetal Intestine Small	intestine
8	chr7:12358000-12361800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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