Variant report

Variant	rs9924494
Chromosome Location	chr16:58600825-58600826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:58577979..58580796-chr16:58599723..58601867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125107	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13329892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13333754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334745	1.00[EUR][1000 genomes]
rs13334922	1.00[EUR][1000 genomes]
rs13335464	1.00[EUR][1000 genomes]
rs13335851	1.00[EUR][1000 genomes]
rs13335953	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13337650	1.00[EUR][1000 genomes]
rs13339352	1.00[EUR][1000 genomes]
rs28394663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28468502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472773	1.00[EUR][1000 genomes]
rs28530777	1.00[EUR][1000 genomes]
rs28533067	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28613241	1.00[EUR][1000 genomes]
rs28644182	1.00[EUR][1000 genomes]
rs28744389	1.00[EUR][1000 genomes]
rs34698978	1.00[EUR][1000 genomes]
rs57335704	1.00[EUR][1000 genomes]
rs7186446	1.00[EUR][1000 genomes]
rs7193580	1.00[EUR][1000 genomes]
rs73550817	1.00[EUR][1000 genomes]
rs73550821	1.00[EUR][1000 genomes]
rs73558468	1.00[EUR][1000 genomes]
rs8048686	1.00[EUR][1000 genomes]
rs9746055	1.00[EUR][1000 genomes]
rs9923409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926053	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9930277	1.00[EUR][1000 genomes]
rs9938192	1.00[EUR][1000 genomes]
rs9938386	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939324	1.00[EUR][1000 genomes]
rs9941013	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9941175	0.81[AFR][1000 genomes];1.00[EUR][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	nsv532532	chr16:58116482-58611986	Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
4	esv1800900	chr16:58579274-58615341	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv521338	chr16:58580519-58653838	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58548800-58635600	Strong transcription	Dnd41	blood
2	chr16:58550000-58635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:58550600-58625200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr16:58550600-58635200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:58550800-58606000	Strong transcription	Primary B cells from cord blood	blood
6	chr16:58550800-58616600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr16:58550800-58623200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr16:58550800-58625000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:58551000-58605600	Strong transcription	Primary T cells from cord blood	blood
10	chr16:58551000-58624000	Strong transcription	Adipose Nuclei	Adipose
11	chr16:58551000-58625200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:58551000-58625400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr16:58551000-58628800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr16:58551000-58629200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:58551000-58633400	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:58551000-58635000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr16:58551000-58635000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr16:58551000-58635200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:58551000-58635400	Strong transcription	Fetal Thymus	thymus
20	chr16:58551200-58601400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr16:58551200-58605400	Strong transcription	K562	blood
22	chr16:58551200-58620400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:58551200-58628200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr16:58551200-58633400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:58551200-58634800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr16:58551200-58635000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr16:58551200-58635000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr16:58551200-58635400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr16:58551200-58635600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr16:58551400-58616400	Strong transcription	HepG2	liver
31	chr16:58551400-58630000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:58551600-58635400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr16:58551800-58623200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr16:58551800-58634600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr16:58552000-58601200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:58555000-58606400	Strong transcription	GM12878-XiMat	blood
37	chr16:58560600-58623000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:58568200-58605200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr16:58574400-58601200	Weak transcription	Stomach Mucosa	stomach
40	chr16:58576800-58635200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:58579600-58608600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr16:58580400-58620600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr16:58582000-58608200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr16:58582800-58635400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:58586200-58604800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr16:58589800-58604200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:58590000-58603600	Weak transcription	Small Intestine	intestine
48	chr16:58591000-58605200	Weak transcription	Spleen	Spleen
49	chr16:58591000-58610200	Weak transcription	Psoas Muscle	Psoas
50	chr16:58592800-58608000	Weak transcription	Fetal Heart	heart

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