Variant report

Variant	rs72804899
Chromosome Location	chr5:115560345-115560346
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10073557	1.00[ASN][1000 genomes]
rs1031365	0.99[ASN][1000 genomes]
rs10519452	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1422498	1.00[ASN][1000 genomes]
rs17138924	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17139210	1.00[ASN][1000 genomes]
rs17139251	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1896684	0.89[ASN][1000 genomes]
rs2271225	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2900096	0.85[ASN][1000 genomes]
rs4308513	0.81[ASN][1000 genomes]
rs4605830	1.00[ASN][1000 genomes]
rs55742067	0.87[EUR][1000 genomes]
rs55857351	1.00[AFR][1000 genomes]
rs57659470	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6594958	0.99[ASN][1000 genomes]
rs6594959	0.89[ASN][1000 genomes]
rs66783056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67139169	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67339497	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67412230	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6885461	0.89[ASN][1000 genomes]
rs72804829	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72804830	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72804832	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72804839	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72804843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72804844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72804845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72804850	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72804862	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72804864	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72804867	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72804869	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72804873	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72804875	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72804877	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72804882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72804884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72804885	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72804889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72804891	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72804892	0.96[ASN][1000 genomes]
rs72804893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72804896	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72804898	0.97[ASN][1000 genomes]
rs72804900	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72804901	1.00[ASN][1000 genomes]
rs72806907	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72806908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72806910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72806917	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72806919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72806920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72806923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72806926	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72806927	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72806930	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72806931	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72806933	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72806937	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72806941	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72806944	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72808904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72808909	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72808912	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72808917	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72808922	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72808927	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72808928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72808929	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72808930	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72808931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72808932	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72808934	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72808943	0.87[EUR][1000 genomes]
rs72808945	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72808949	0.90[EUR][1000 genomes]
rs72808952	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72808958	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72808959	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72808960	0.87[EUR][1000 genomes]
rs72808961	0.90[EUR][1000 genomes]
rs72808964	0.90[EUR][1000 genomes]
rs72808969	1.00[AFR][1000 genomes]
rs72808973	1.00[AFR][1000 genomes]
rs72808977	1.00[AFR][1000 genomes]
rs7715621	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 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	nsv527320	chr5:115382097-115573543	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	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
4	nsv1019972	chr5:115386860-115563533	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv537869	chr5:115386860-115563533	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1018861	chr5:115397834-115563533	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv537870	chr5:115397834-115563533	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv1034069	chr5:115490345-115563533	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv537873	chr5:115490345-115563533	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	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
13	nsv1023880	chr5:115508328-115563533	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv537874	chr5:115508328-115563533	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1021381	chr5:115509949-115568193	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	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
17	nsv1028993	chr5:115523717-115563533	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv537875	chr5:115523717-115563533	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115542600-115562800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:115551800-115576400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:115557000-115562800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:115557400-115580800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr5:115557400-115583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:115557600-115561000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:115559200-115564000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:115559200-115578400	Weak transcription	Fetal Lung	lung
9	chr5:115559800-115561400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:115560000-115560400	Strong transcription	Primary B cells from cord blood	blood
11	chr5:115560000-115560400	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr5:115560000-115560400	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr5:115560000-115560600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr5:115560000-115561800	Weak transcription	Liver	Liver
15	chr5:115560000-115563400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:115560000-115563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:115560200-115560400	ZNF genes & repeats	Fetal Stomach	stomach
18	chr5:115560200-115560400	ZNF genes & repeats	Left Ventricle	heart
19	chr5:115560200-115560400	ZNF genes & repeats	Pancreas	Pancrea
20	chr5:115560200-115560600	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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