Variant report

Variant	rs28594283
Chromosome Location	chr16:81498656-81498657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81498244..81500651-chr16:81691686..81694302,2	K562	blood:
2	chr16:81422912..81425576-chr16:81496658..81498919,2	K562	blood:
3	chr16:81498152..81500309-chr20:52685487..52687630,2	MCF-7	breast:
4	chr16:81489735..81495358-chr16:81495824..81502529,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064787	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs13330047	1.00[AMR][1000 genomes]
rs13330236	1.00[AMR][1000 genomes]
rs13330460	1.00[AMR][1000 genomes]
rs13331648	1.00[AMR][1000 genomes]
rs13333096	1.00[AMR][1000 genomes]
rs13335545	1.00[AMR][1000 genomes]
rs13336715	1.00[AMR][1000 genomes]
rs13336792	1.00[AMR][1000 genomes]
rs13338579	1.00[AMR][1000 genomes]
rs16955449	1.00[AMR][1000 genomes]
rs28412656	1.00[AMR][1000 genomes]
rs28418533	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]
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]
rs73596428	1.00[AMR][1000 genomes]
rs73596440	1.00[AMR][1000 genomes]
rs73596462	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]
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	0.83[AFR][1000 genomes];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	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 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	chr16:81482000-81507000	Weak transcription	Fetal Heart	heart
2	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
3	chr16:81486000-81500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:81486400-81501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:81486600-81502600	Weak transcription	Fetal Kidney	kidney
6	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:81487000-81500000	Weak transcription	Fetal Lung	lung
8	chr16:81487000-81504400	Weak transcription	Fetal Brain Male	brain
9	chr16:81487000-81507200	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:81489000-81499200	Strong transcription	Dnd41	blood
11	chr16:81490600-81509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr16:81490800-81498800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:81490800-81499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:81491000-81500000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr16:81491200-81498800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:81491600-81500000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:81491600-81503400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:81491800-81499600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:81492000-81498800	Genic enhancers	HepG2	liver
20	chr16:81492000-81499200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr16:81492200-81500200	Weak transcription	Fetal Brain Female	brain
22	chr16:81492200-81502000	Weak transcription	Colonic Mucosa	Colon
23	chr16:81492200-81504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:81492200-81504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr16:81492200-81512200	Genic enhancers	A549	lung
26	chr16:81492400-81500000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:81492400-81500000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:81492400-81500600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr16:81492400-81503000	Weak transcription	NH-A	brain
30	chr16:81492400-81503400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr16:81492600-81506200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:81492800-81504600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:81493000-81498800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr16:81493000-81500600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr16:81493000-81504400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr16:81493600-81500000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:81493600-81500000	Weak transcription	HMEC	breast
38	chr16:81493600-81500000	Weak transcription	K562	blood
39	chr16:81494000-81499200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:81494000-81499200	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:81494200-81499800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:81494200-81500200	Weak transcription	Brain Germinal Matrix	brain
43	chr16:81494200-81502200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:81494200-81503400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr16:81494800-81498800	Weak transcription	Esophagus	oesophagus
46	chr16:81494800-81498800	Weak transcription	Right Atrium	heart
47	chr16:81494800-81500000	Weak transcription	Gastric	stomach
48	chr16:81494800-81502000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:81495000-81498800	Weak transcription	Left Ventricle	heart
50	chr16:81495200-81503400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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