Variant report

Variant	rs62055088
Chromosome Location	chr16:73100230-73100231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72876716..72878978-chr16:73099267..73102031,2	MCF-7	breast:
2	chr16:73032236..73034528-chr16:73099070..73100883,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs62055069	0.85[AMR][1000 genomes]
rs62055070	0.85[AMR][1000 genomes]
rs62055071	0.85[AMR][1000 genomes]
rs62055072	0.85[AMR][1000 genomes]
rs62055073	0.85[AMR][1000 genomes]
rs62055076	0.85[AMR][1000 genomes]
rs62055077	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62055081	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62055083	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62055085	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62055087	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052905	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1815924	chr16:73085286-73105415	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv1837302	chr16:73091679-73102456	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73093200-73100600	Weak transcription	Gastric	stomach
2	chr16:73096600-73100600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr16:73096600-73101000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:73097000-73100600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:73097000-73100800	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr16:73097200-73101400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr16:73097400-73100400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:73097600-73100600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr16:73097600-73101000	Bivalent Enhancer	Fetal Thymus	thymus
10	chr16:73097800-73100400	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr16:73097800-73101400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr16:73097800-73102000	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr16:73098600-73103000	Enhancers	Lung	lung
14	chr16:73099000-73101000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:73099000-73101000	Bivalent Enhancer	Fetal Brain Male	brain
16	chr16:73099000-73101200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr16:73099000-73101400	Weak transcription	HSMMtube	muscle
18	chr16:73099000-73102000	Enhancers	Hela-S3	cervix
19	chr16:73099000-73103400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:73099200-73100400	Weak transcription	Ovary	ovary
21	chr16:73099200-73100600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr16:73099200-73100600	Enhancers	NH-A	brain
23	chr16:73099200-73100800	Weak transcription	Aorta	Aorta
24	chr16:73099200-73100800	Weak transcription	A549	lung
25	chr16:73099200-73101000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:73099200-73101000	Bivalent Enhancer	Left Ventricle	heart
27	chr16:73099200-73101400	Weak transcription	HSMM	muscle
28	chr16:73099400-73100600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
29	chr16:73099400-73100800	Enhancers	NHLF	lung
30	chr16:73099400-73101000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
31	chr16:73099600-73100400	Bivalent Enhancer	Liver	Liver
32	chr16:73099600-73100400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
33	chr16:73099600-73100600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr16:73099600-73101200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr16:73099600-73101200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:73099600-73101200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr16:73099600-73102000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:73099800-73100400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr16:73099800-73100600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr16:73099800-73100600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:73099800-73100600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr16:73099800-73100600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
43	chr16:73099800-73100800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr16:73099800-73100800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr16:73099800-73100800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
46	chr16:73099800-73100800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
47	chr16:73099800-73101000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr16:73099800-73101000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:73099800-73101000	Flanking Active TSS	Right Ventricle	heart
50	chr16:73099800-73101000	Bivalent Enhancer	NHEK	skin

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