Variant report

Variant	rs72808927
Chromosome Location	chr5:115629613-115629614
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10519452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17139251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17139353	0.97[ASN][1000 genomes]
rs2900096	0.90[ASN][1000 genomes]
rs4308513	0.91[ASN][1000 genomes]
rs55742067	0.92[EUR][1000 genomes]
rs56168251	1.00[AFR][1000 genomes]
rs57526524	1.00[AFR][1000 genomes]
rs57659470	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58291729	1.00[AFR][1000 genomes]
rs58424191	0.97[ASN][1000 genomes]
rs58776100	1.00[AFR][1000 genomes]
rs66783056	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67139169	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67339497	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67412230	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72804850	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804862	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804864	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804867	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804869	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804873	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804875	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804877	0.85[AMR][1000 genomes]
rs72804882	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804884	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804885	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804889	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72804891	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72804893	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72804899	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72804900	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72806907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72806908	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72806910	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72806917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72806919	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72806920	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72806923	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72806926	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72806927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72806930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806937	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806941	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806944	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72808904	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72808909	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72808912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72808916	0.97[ASN][1000 genomes]
rs72808917	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72808922	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72808928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72808929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72808930	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72808931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72808932	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72808934	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72808943	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72808945	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72808949	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72808952	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72808958	0.92[EUR][1000 genomes]
rs72808959	0.92[EUR][1000 genomes]
rs72808960	0.92[EUR][1000 genomes]
rs72808961	0.95[EUR][1000 genomes]
rs72808964	0.95[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]
rs7715621	0.91[ASN][1000 genomes]
rs7729344	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
4	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
5	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
6	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
7	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv2757134	chr5:115578810-115633474	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2759372	chr5:115578810-115633474	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2760969	chr5:115583627-115630890	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1023495	chr5:115596277-115629769	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv2752575	chr5:115596277-115633474	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1028664	chr5:115601522-115630878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1034438	chr5:115612225-115630878	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115612800-115633200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:115612800-115633200	Weak transcription	Ovary	ovary
3	chr5:115613400-115641600	Weak transcription	HSMM	muscle
4	chr5:115613600-115632000	Weak transcription	Fetal Heart	heart
5	chr5:115613600-115633000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:115624200-115631800	Weak transcription	Liver	Liver
7	chr5:115624400-115631800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:115624400-115633200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:115624400-115633600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:115625600-115632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:115625600-115633200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:115625600-115633200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:115625600-115633200	Weak transcription	Psoas Muscle	Psoas
14	chr5:115625600-115633600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:115625600-115633800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:115625600-115634000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:115625600-115639200	Weak transcription	Fetal Stomach	stomach
18	chr5:115625600-115643000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:115625800-115630800	Weak transcription	Fetal Intestine Large	intestine
20	chr5:115625800-115631000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:115626000-115633200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:115626000-115633200	Weak transcription	Left Ventricle	heart
23	chr5:115626200-115632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:115626400-115633400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:115626400-115633800	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:115626600-115633600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr5:115626600-115641600	Weak transcription	Fetal Brain Male	brain
28	chr5:115626800-115642200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:115627000-115632000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:115627000-115633400	Weak transcription	Fetal Lung	lung
31	chr5:115627000-115633800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:115627200-115632200	Weak transcription	Adipose Nuclei	Adipose
33	chr5:115627200-115635200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:115627400-115633600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:115627600-115630200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:115627800-115629800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:115627800-115630000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:115627800-115630000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr5:115627800-115633200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:115627800-115639200	Weak transcription	Placenta	Placenta
41	chr5:115628000-115629800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:115628000-115630400	Strong transcription	Primary B cells from cord blood	blood
43	chr5:115628000-115643800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:115628400-115632000	Weak transcription	Primary T cells from cord blood	blood
45	chr5:115628400-115633400	Weak transcription	Fetal Kidney	kidney
46	chr5:115628400-115639200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:115628400-115641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:115628600-115633000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:115628600-115633200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr5:115628600-115633200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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