Variant report

Variant	rs28444781
Chromosome Location	chr16:69923354-69923355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1437137	1.00[ASN][1000 genomes]
rs17298718	1.00[ASN][1000 genomes]
rs17300801	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45564335	1.00[ASN][1000 genomes]
rs55635123	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897481	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921818	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56000913	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127339	1.00[ASN][1000 genomes]
rs56180453	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186702	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369384	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56377800	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58722949	0.91[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	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203292	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204326	0.90[EUR][1000 genomes];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	1.00[ASN][1000 genomes]
rs72783160	1.00[ASN][1000 genomes]
rs72783163	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783165	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783174	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783183	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783184	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783188	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783189	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783195	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783198	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785009	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785012	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785019	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785020	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785024	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785026	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785029	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785033	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785034	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785037	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785038	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785045	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785047	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785048	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785052	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785055	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785058	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785059	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785064	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785065	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785073	1.00[ASN][1000 genomes]
rs8062809	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935643	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:119 , 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	chr16:69900800-69933400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr16:69901800-69924600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:69902600-69924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:69907200-69923600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:69907400-69923800	Weak transcription	HMEC	breast
9	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
10	chr16:69908000-69924200	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
12	chr16:69910600-69937400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:69911400-69923600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:69911400-69923600	Weak transcription	Brain Germinal Matrix	brain
15	chr16:69911400-69923600	Weak transcription	GM12878-XiMat	blood
16	chr16:69911400-69924400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr16:69911600-69923600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:69913600-69950400	Weak transcription	A549	lung
20	chr16:69915200-69923400	Weak transcription	Brain Angular Gyrus	brain
21	chr16:69915200-69924000	Weak transcription	NH-A	brain
22	chr16:69915400-69923600	Weak transcription	Brain Anterior Caudate	brain
23	chr16:69915400-69923800	Weak transcription	Adipose Nuclei	Adipose
24	chr16:69915400-69924000	Weak transcription	NHLF	lung
25	chr16:69915400-69924000	Weak transcription	Osteobl	bone
26	chr16:69915400-69924200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr16:69916400-69931600	Strong transcription	Primary B cells from cord blood	blood
28	chr16:69916400-69931600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr16:69917200-69930600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr16:69919800-69932400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr16:69920200-69923600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:69920600-69928000	Strong transcription	Primary T cells from cord blood	blood
33	chr16:69921000-69923400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr16:69921200-69924000	Strong transcription	Fetal Intestine Small	intestine
35	chr16:69921400-69938800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:69921600-69923800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:69921600-69925000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:69921600-69925800	Strong transcription	HepG2	liver
39	chr16:69921600-69932800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr16:69921800-69923600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr16:69921800-69923600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr16:69921800-69923600	Strong transcription	Rectal Smooth Muscle	rectum
43	chr16:69921800-69924000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:69921800-69924400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:69921800-69924400	Strong transcription	Fetal Intestine Large	intestine
46	chr16:69921800-69925000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:69921800-69925800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr16:69921800-69925800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr16:69921800-69926000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr16:69921800-69926000	Strong transcription	Thymus	Thymus

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