Variant report

Variant	rs4889323
Chromosome Location	chr16:81499054-81499055
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	chr16:81498152..81500309-chr20:52685487..52687630,2	MCF-7	breast:
3	chr16:81489735..81495358-chr16:81495824..81502529,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064787	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10438632	0.86[ASN][1000 genomes]
rs16955430	0.86[ASN][1000 genomes]
rs4888146	0.86[ASN][1000 genomes]
rs55968724	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56140527	0.86[ASN][1000 genomes]
rs56155262	0.86[ASN][1000 genomes]
rs56191096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56311237	0.86[ASN][1000 genomes]
rs9925828	0.86[ASN][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	chr16:81490800-81499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:81491000-81500000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:81491600-81500000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:81491600-81503400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr16:81491800-81499600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:81492000-81499200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr16:81492200-81500200	Weak transcription	Fetal Brain Female	brain
19	chr16:81492200-81502000	Weak transcription	Colonic Mucosa	Colon
20	chr16:81492200-81504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:81492200-81504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr16:81492200-81512200	Genic enhancers	A549	lung
23	chr16:81492400-81500000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:81492400-81500000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:81492400-81500600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:81492400-81503000	Weak transcription	NH-A	brain
27	chr16:81492400-81503400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr16:81492600-81506200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:81492800-81504600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:81493000-81500600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr16:81493000-81504400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr16:81493600-81500000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:81493600-81500000	Weak transcription	HMEC	breast
34	chr16:81493600-81500000	Weak transcription	K562	blood
35	chr16:81494000-81499200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:81494000-81499200	Weak transcription	Fetal Muscle Leg	muscle
37	chr16:81494200-81499800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:81494200-81500200	Weak transcription	Brain Germinal Matrix	brain
39	chr16:81494200-81502200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:81494200-81503400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr16:81494800-81500000	Weak transcription	Gastric	stomach
42	chr16:81494800-81502000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:81495200-81503400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:81495400-81502800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr16:81496000-81500600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:81496000-81500600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:81496200-81499200	Strong transcription	NHEK	skin
48	chr16:81496200-81500000	Weak transcription	Placenta	Placenta
49	chr16:81496400-81499200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr16:81496400-81500200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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