Variant report

Variant	rs28418533
Chromosome Location	chr16:81428416-81428417
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81414835..81419984-chr16:81427493..81431152,5	K562	blood:
2	chr16:81406517..81408767-chr16:81427027..81429941,2	K562	blood:
3	chr16:81417123..81419984-chr16:81427493..81430787,3	K562	blood:
4	chr16:81427513..81429948-chr16:81435668..81437409,2	K562	blood:

Variant related genes	Relation type
ENSG00000272923	Chromatin interaction
ENSG00000273048	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs13330047	1.00[AMR][1000 genomes]
rs13330236	1.00[AMR][1000 genomes]
rs13330460	1.00[AMR][1000 genomes]
rs13330968	1.00[AMR][1000 genomes]
rs13331534	1.00[AMR][1000 genomes]
rs13331648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331946	1.00[AMR][1000 genomes]
rs13333096	1.00[AMR][1000 genomes]
rs13334454	1.00[AMR][1000 genomes]
rs13335545	1.00[AMR][1000 genomes]
rs13336715	1.00[AMR][1000 genomes]
rs13336792	1.00[AMR][1000 genomes]
rs13338110	1.00[AMR][1000 genomes]
rs13338579	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955449	1.00[AMR][1000 genomes]
rs28412656	1.00[AMR][1000 genomes]
rs28436066	1.00[AMR][1000 genomes]
rs28438989	1.00[AMR][1000 genomes]
rs28493867	1.00[AMR][1000 genomes]
rs28572501	1.00[AMR][1000 genomes]
rs28594283	1.00[AMR][1000 genomes]
rs28649617	1.00[AMR][1000 genomes]
rs28669745	1.00[AMR][1000 genomes]
rs28711634	1.00[AMR][1000 genomes]
rs28763301	1.00[AMR][1000 genomes]
rs2927303	1.00[AMR][1000 genomes]
rs2927306	1.00[AMR][1000 genomes]
rs2927309	1.00[AMR][1000 genomes]
rs2927310	1.00[AMR][1000 genomes]
rs2966089	1.00[AMR][1000 genomes]
rs2966096	1.00[AMR][1000 genomes]
rs56850891	1.00[AMR][1000 genomes]
rs73594494	1.00[AMR][1000 genomes]
rs73594496	1.00[AMR][1000 genomes]
rs73596412	1.00[AMR][1000 genomes]
rs9921409	1.00[AMR][1000 genomes]
rs9923475	1.00[AMR][1000 genomes]
rs9925710	1.00[AMR][1000 genomes]
rs9925814	1.00[AMR][1000 genomes]
rs9927474	1.00[AMR][1000 genomes]
rs9928818	1.00[AMR][1000 genomes]
rs9929135	1.00[AMR][1000 genomes]
rs9931473	1.00[AMR][1000 genomes]
rs9932717	1.00[AMR][1000 genomes]
rs9933163	1.00[AMR][1000 genomes]
rs9934014	1.00[AMR][1000 genomes]
rs9934020	1.00[AMR][1000 genomes]
rs9934846	1.00[AMR][1000 genomes]
rs9934867	1.00[AMR][1000 genomes]
rs9935244	1.00[AMR][1000 genomes]
rs9935348	1.00[AMR][1000 genomes]
rs9935375	1.00[AMR][1000 genomes]
rs9935617	1.00[AMR][1000 genomes]
rs9935646	1.00[AMR][1000 genomes]
rs9936412	1.00[AMR][1000 genomes]
rs9937004	1.00[AMR][1000 genomes]
rs9937189	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81384200-81434600	Weak transcription	NHLF	lung
2	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
3	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:81411400-81429200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr16:81411400-81429600	Weak transcription	HSMM	muscle
8	chr16:81411600-81428600	Weak transcription	Fetal Kidney	kidney
9	chr16:81411600-81437400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:81411800-81428600	Weak transcription	HSMMtube	muscle
11	chr16:81411800-81431000	Weak transcription	K562	blood
12	chr16:81411800-81432400	Weak transcription	A549	lung
13	chr16:81412200-81434400	Weak transcription	Hela-S3	cervix
14	chr16:81413400-81434200	Weak transcription	HMEC	breast
15	chr16:81415600-81437000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr16:81418200-81437200	Weak transcription	Colon Smooth Muscle	Colon
17	chr16:81418600-81430600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr16:81418600-81431000	Weak transcription	Brain Germinal Matrix	brain
19	chr16:81418600-81437400	Weak transcription	Fetal Lung	lung
20	chr16:81419000-81429400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:81420200-81428600	Weak transcription	HUVEC	blood vessel
22	chr16:81422200-81432000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:81423200-81428800	Weak transcription	Placenta	Placenta
24	chr16:81423200-81437400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:81423400-81429800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:81423400-81431600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:81423600-81433400	Weak transcription	NHEK	skin
28	chr16:81425000-81428800	Weak transcription	Colonic Mucosa	Colon
29	chr16:81425000-81431600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr16:81425000-81431800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr16:81425000-81434400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:81425000-81437000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr16:81425200-81431200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:81425200-81431800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:81425200-81434600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr16:81425800-81428800	Weak transcription	Adipose Nuclei	Adipose
37	chr16:81425800-81428800	Weak transcription	Esophagus	oesophagus
38	chr16:81425800-81432400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:81425800-81434600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:81426000-81428600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr16:81426000-81428600	Weak transcription	Gastric	stomach
42	chr16:81426000-81428600	Weak transcription	Left Ventricle	heart
43	chr16:81426000-81428600	Weak transcription	Lung	lung
44	chr16:81426000-81428600	Weak transcription	Ovary	ovary
45	chr16:81426000-81428600	Weak transcription	Pancreas	Pancrea
46	chr16:81426000-81429000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:81426000-81429800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr16:81426000-81430000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr16:81426000-81430000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:81426000-81431200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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