Variant report

Variant	rs58223875
Chromosome Location	chr16:30598270-30598271
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:30598097-30598305	K562	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30455580..30458934-chr16:30594897..30599058,5	MCF-7	breast:
2	chr16:30578114..30586052-chr16:30592731..30598818,24	MCF-7	breast:
3	chr16:30545394..30548849-chr16:30597035..30599710,5	K562	blood:
4	chr16:30593850..30596066-chr16:30597783..30599898,3	MCF-7	breast:
5	chr16:30075981..30077992-chr16:30595853..30598400,2	K562	blood:
6	chr16:30535819..30539359-chr16:30595521..30599698,5	K562	blood:
7	chr16:30594515..30599835-chr16:30618080..30622576,11	MCF-7	breast:
8	chr16:30595575..30599194-chr16:30620007..30621868,4	MCF-7	breast:
9	chr16:30440231..30443070-chr16:30597092..30598831,3	MCF-7	breast:
10	chr16:30580685..30586607-chr16:30594028..30599624,16	MCF-7	breast:
11	chr16:30568530..30574160-chr16:30594464..30599047,9	MCF-7	breast:
12	chr16:30597609..30599150-chr16:30661053..30663225,2	K562	blood:
13	chr16:30453478..30457245-chr16:30595173..30599104,6	K562	blood:
14	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
15	chr16:30535779..30539932-chr16:30594459..30598426,6	MCF-7	breast:
16	chr16:30536312..30540010-chr16:30593652..30599869,13	MCF-7	breast:
17	chr16:30597245..30598925-chr16:30644612..30647515,2	MCF-7	breast:
18	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
19	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
20	chr16:30568317..30569901-chr16:30597134..30598772,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF785	TF binding region
ENSG00000149925	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000260494	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000235560	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11859342	1.00[EUR][1000 genomes]
rs11862680	1.00[EUR][1000 genomes]
rs11865829	1.00[EUR][1000 genomes]
rs34007971	1.00[EUR][1000 genomes]
rs34326943	1.00[EUR][1000 genomes]
rs34874849	1.00[EUR][1000 genomes]
rs35512295	1.00[EUR][1000 genomes]
rs35977794	1.00[EUR][1000 genomes]
rs58223373	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59391245	0.80[AFR][1000 genomes]
rs60048183	1.00[EUR][1000 genomes]
rs60393747	1.00[AMR][1000 genomes]
rs60584290	1.00[EUR][1000 genomes]
rs61745791	1.00[EUR][1000 genomes]
rs6565206	1.00[EUR][1000 genomes]
rs7191097	1.00[EUR][1000 genomes]
rs7196067	1.00[EUR][1000 genomes]
rs74015016	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015017	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74015019	1.00[EUR][1000 genomes]
rs8044106	1.00[EUR][1000 genomes]
rs8051182	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8061986	1.00[EUR][1000 genomes]
rs8062907	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv542899	chr16:30575260-30612385	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30588600-30601600	Weak transcription	HepG2	liver
2	chr16:30595800-30598400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:30596000-30598400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:30596000-30598400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:30596400-30598600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr16:30597600-30599200	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr16:30597800-30598400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:30597800-30598400	Enhancers	Primary B cells from peripheral blood	blood
9	chr16:30597800-30598400	Enhancers	Primary hematopoietic stem cells	blood
10	chr16:30597800-30598400	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr16:30597800-30598400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr16:30597800-30598400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr16:30597800-30598400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:30597800-30598400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr16:30597800-30598400	Enhancers	Fetal Brain Male	brain
16	chr16:30597800-30598400	Active TSS	Fetal Brain Female	brain
17	chr16:30597800-30598400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr16:30597800-30598400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr16:30597800-30598400	Enhancers	NHEK	skin
20	chr16:30597800-30598600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr16:30597800-30598600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:30597800-30598600	Enhancers	Fetal Heart	heart
23	chr16:30597800-30598800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr16:30597800-30599000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:30597800-30599000	Weak transcription	Psoas Muscle	Psoas
26	chr16:30597800-30599200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:30597800-30600200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:30597800-30600400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:30597800-30600600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr16:30597800-30600800	Weak transcription	NHLF	lung
31	chr16:30597800-30601800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr16:30597800-30603600	Weak transcription	NH-A	brain
33	chr16:30597800-30608800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr16:30597800-30609200	Weak transcription	Brain Angular Gyrus	brain
35	chr16:30597800-30609400	Weak transcription	Brain Hippocampus Middle	brain
36	chr16:30597800-30609400	Weak transcription	Brain Substantia Nigra	brain
37	chr16:30597800-30609600	Weak transcription	Adipose Nuclei	Adipose
38	chr16:30597800-30613400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr16:30597800-30613400	Weak transcription	Brain Anterior Caudate	brain
40	chr16:30597800-30613400	Weak transcription	Spleen	Spleen
41	chr16:30597800-30613600	Weak transcription	Fetal Lung	lung
42	chr16:30597800-30613600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr16:30597800-30613800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:30597800-30613800	Weak transcription	HSMM	muscle
45	chr16:30597800-30614000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr16:30597800-30614000	Weak transcription	Left Ventricle	heart
47	chr16:30597800-30614000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr16:30597800-30614000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr16:30597800-30614200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:30597800-30614200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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