Variant report

Variant	rs72806917
Chromosome Location	chr5:115578514-115578515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10073557	0.92[ASN][1000 genomes]
rs1031365	0.93[ASN][1000 genomes]
rs10519452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1422498	0.92[ASN][1000 genomes]
rs17138924	0.83[AMR][1000 genomes]
rs17139210	0.92[ASN][1000 genomes]
rs17139251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1896684	0.97[ASN][1000 genomes]
rs2271225	0.83[AMR][1000 genomes]
rs4605830	0.92[ASN][1000 genomes]
rs55742067	0.87[EUR][1000 genomes]
rs56168251	1.00[AFR][1000 genomes]
rs57526524	1.00[AFR][1000 genomes]
rs57659470	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58291729	1.00[AFR][1000 genomes]
rs58776100	1.00[AFR][1000 genomes]
rs6594958	0.93[ASN][1000 genomes]
rs6594959	0.97[ASN][1000 genomes]
rs66783056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67139169	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67339497	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67412230	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6885461	0.97[ASN][1000 genomes]
rs72804829	0.83[AMR][1000 genomes]
rs72804830	0.83[AMR][1000 genomes]
rs72804832	0.83[AMR][1000 genomes]
rs72804839	0.83[AMR][1000 genomes]
rs72804843	1.00[AMR][1000 genomes]
rs72804844	1.00[AMR][1000 genomes]
rs72804845	1.00[AMR][1000 genomes]
rs72804850	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72804862	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72804864	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72804867	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72804869	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72804873	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72804875	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72804877	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72804882	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72804884	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72804885	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72804889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72804891	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72804892	0.90[ASN][1000 genomes]
rs72804893	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72804896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72804898	0.92[ASN][1000 genomes]
rs72804899	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72804900	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72804901	0.92[ASN][1000 genomes]
rs72806907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72806910	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72806919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72806927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72806930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72806931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72806933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72806937	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72806941	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72806944	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72808904	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72808909	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72808912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72808917	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72808922	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72808927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72808928	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72808929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72808930	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72808931	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72808932	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72808934	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72808943	0.87[EUR][1000 genomes]
rs72808945	0.87[EUR][1000 genomes]
rs72808949	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72808952	0.90[EUR][1000 genomes]
rs72808958	0.87[EUR][1000 genomes]
rs72808959	0.87[EUR][1000 genomes]
rs72808960	0.87[EUR][1000 genomes]
rs72808961	0.90[EUR][1000 genomes]
rs72808964	0.90[EUR][1000 genomes]
rs72808976	1.00[AFR][1000 genomes]
rs72808979	1.00[AFR][1000 genomes]
rs72808985	1.00[AFR][1000 genomes]
rs72808987	1.00[AFR][1000 genomes]
rs72808992	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1032531	chr5:115489694-115583800	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv882742	chr5:115489770-115584159	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv882743	chr5:115501792-115634127	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv524812	chr5:115517238-115584159	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1019540	chr5:115526349-115610020	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2752058	chr5:115533065-115605198	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1016585	chr5:115533065-115605455	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1032799	chr5:115533065-115609552	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1016924	chr5:115533065-115610020	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv599481	chr5:115540041-115609552	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1028663	chr5:115540586-115586834	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1024670	chr5:115540586-115615459	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv519321	chr5:115541563-115584159	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv462401	chr5:115541563-115609552	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv599482	chr5:115541563-115609552	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv521050	chr5:115541563-115617297	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv599483	chr5:115561128-115609552	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv882744	chr5:115561128-115609552	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv882745	chr5:115561128-115616288	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv34428	chr5:115575513-115626966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv2753795	chr5:115576026-115626966	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv2755740	chr5:115576139-115633474	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115557400-115580800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr5:115557400-115583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:115560400-115581000	Weak transcription	Primary T cells from cord blood	blood
4	chr5:115560400-115610600	Weak transcription	Left Ventricle	heart
5	chr5:115561400-115580000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:115561800-115586400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:115562400-115589000	Weak transcription	Ovary	ovary
8	chr5:115568400-115578800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:115569800-115582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:115572000-115580400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:115573000-115578800	Weak transcription	Primary B cells from cord blood	blood
12	chr5:115574000-115580000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:115577600-115579600	Enhancers	Fetal Kidney	kidney
14	chr5:115577800-115578800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:115578000-115578800	Enhancers	Adipose Nuclei	Adipose
16	chr5:115578200-115578600	Enhancers	Liver	Liver
17	chr5:115578200-115578800	Enhancers	Colon Smooth Muscle	Colon
18	chr5:115578200-115579000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:115578400-115578600	Enhancers	Fetal Lung	lung

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