Variant report

Variant	rs72785045
Chromosome Location	chr16:69910917-69910918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1437137	1.00[ASN][1000 genomes]
rs17298718	1.00[ASN][1000 genomes]
rs17300801	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444781	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45564335	1.00[ASN][1000 genomes]
rs55635123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897481	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921818	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56000913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127339	1.00[ASN][1000 genomes]
rs56171157	1.00[ASN][1000 genomes]
rs56180453	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369384	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56377800	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58722949	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689453	1.00[ASN][1000 genomes]
rs689454	1.00[ASN][1000 genomes]
rs689461	1.00[ASN][1000 genomes]
rs7191376	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203292	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204326	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783105	1.00[ASN][1000 genomes]
rs72783116	1.00[ASN][1000 genomes]
rs72783117	1.00[ASN][1000 genomes]
rs72783118	1.00[ASN][1000 genomes]
rs72783119	1.00[ASN][1000 genomes]
rs72783121	1.00[ASN][1000 genomes]
rs72783128	1.00[ASN][1000 genomes]
rs72783158	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783160	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783163	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783165	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783174	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783183	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783184	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783188	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783198	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785009	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785012	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785019	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785020	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785024	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785026	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785029	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785033	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785034	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785037	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785038	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785047	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785048	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785055	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785058	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785064	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785065	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785073	1.00[ASN][1000 genomes]
rs72801352	1.00[ASN][1000 genomes]
rs72801354	1.00[ASN][1000 genomes]
rs8055148	1.00[ASN][1000 genomes]
rs8062809	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935643	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69890400-69923400	Weak transcription	HUVEC	blood vessel
2	chr16:69893000-69934800	Weak transcription	Hela-S3	cervix
3	chr16:69893200-69923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:69900000-69914600	Weak transcription	NHLF	lung
5	chr16:69900200-69914600	Weak transcription	NH-A	brain
6	chr16:69900800-69915600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr16:69900800-69933400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr16:69901000-69912600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:69901000-69915200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr16:69901000-69915200	Strong transcription	Primary T cells from cord blood	blood
11	chr16:69901000-69918800	Strong transcription	Fetal Intestine Large	intestine
12	chr16:69901800-69922000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:69901800-69924600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:69902000-69912400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:69902600-69914400	Weak transcription	HSMM	muscle
16	chr16:69902600-69924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:69903200-69912800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr16:69903800-69917600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:69904400-69911600	Strong transcription	Fetal Thymus	thymus
21	chr16:69904400-69911800	Strong transcription	Thymus	Thymus
22	chr16:69904800-69911000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:69904800-69915000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:69905000-69915000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:69905200-69911200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr16:69905200-69917400	Weak transcription	NHEK	skin
27	chr16:69905600-69911200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr16:69905600-69911400	Strong transcription	Lung	lung
29	chr16:69905600-69912000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:69905600-69915400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr16:69905800-69911400	Strong transcription	HepG2	liver
32	chr16:69906800-69923000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr16:69907000-69914400	Weak transcription	NHDF-Ad	bronchial
34	chr16:69907200-69922000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr16:69907200-69923600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr16:69907400-69911400	Strong transcription	Placenta	Placenta
37	chr16:69907400-69923000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:69907400-69923800	Weak transcription	HMEC	breast
39	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
40	chr16:69907800-69916400	Weak transcription	Esophagus	oesophagus
41	chr16:69908000-69924200	Weak transcription	Colon Smooth Muscle	Colon
42	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
43	chr16:69908400-69911200	Weak transcription	Spleen	Spleen
44	chr16:69908400-69914600	Weak transcription	Pancreas	Pancrea
45	chr16:69908400-69919600	Weak transcription	Gastric	stomach
46	chr16:69908400-69921800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:69908600-69913800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:69909000-69922000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr16:69909400-69911200	ZNF genes & repeats	Brain Substantia Nigra	brain
50	chr16:69909600-69911400	ZNF genes & repeats	Primary B cells from cord blood	blood

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