Variant report

Variant	rs8054685
Chromosome Location	chr16:73100056-73100057
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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs73594729	1.00[AMR][1000 genomes]
rs73594738	1.00[AMR][1000 genomes]
rs73594766	1.00[AMR][1000 genomes]
rs73594767	1.00[AMR][1000 genomes]
rs73594773	1.00[AMR][1000 genomes]
rs73594775	1.00[AMR][1000 genomes]
rs8061023	1.00[AMR][1000 genomes]
rs876726	1.00[AMR][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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73093200-73100600	Weak transcription	Gastric	stomach
2	chr16:73095200-73100200	Weak transcription	Psoas Muscle	Psoas
3	chr16:73096600-73100600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr16:73096600-73101000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:73096800-73100200	Bivalent Enhancer	Fetal Stomach	stomach
6	chr16:73097000-73100200	Bivalent Enhancer	Fetal Heart	heart
7	chr16:73097000-73100600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:73097000-73100800	Bivalent Enhancer	Primary B cells from cord blood	blood
9	chr16:73097200-73101400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr16:73097400-73100400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:73097600-73100200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr16:73097600-73100600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr16:73097600-73101000	Bivalent Enhancer	Fetal Thymus	thymus
14	chr16:73097800-73100400	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr16:73097800-73101400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr16:73097800-73102000	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr16:73098600-73100200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:73098600-73103000	Enhancers	Lung	lung
19	chr16:73099000-73100200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:73099000-73101000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:73099000-73101000	Bivalent Enhancer	Fetal Brain Male	brain
22	chr16:73099000-73101200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr16:73099000-73101400	Weak transcription	HSMMtube	muscle
24	chr16:73099000-73102000	Enhancers	Hela-S3	cervix
25	chr16:73099000-73103400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:73099200-73100400	Weak transcription	Ovary	ovary
27	chr16:73099200-73100600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr16:73099200-73100600	Enhancers	NH-A	brain
29	chr16:73099200-73100800	Weak transcription	Aorta	Aorta
30	chr16:73099200-73100800	Weak transcription	A549	lung
31	chr16:73099200-73101000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:73099200-73101000	Bivalent Enhancer	Left Ventricle	heart
33	chr16:73099200-73101400	Weak transcription	HSMM	muscle
34	chr16:73099400-73100200	Active TSS	Colon Smooth Muscle	Colon
35	chr16:73099400-73100200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
36	chr16:73099400-73100200	Active TSS	Osteobl	bone
37	chr16:73099400-73100600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
38	chr16:73099400-73100800	Enhancers	NHLF	lung
39	chr16:73099400-73101000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
40	chr16:73099600-73100400	Bivalent Enhancer	Liver	Liver
41	chr16:73099600-73100400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
42	chr16:73099600-73100600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr16:73099600-73101200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:73099600-73101200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:73099600-73101200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr16:73099600-73102000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:73099800-73100200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:73099800-73100200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:73099800-73100200	Bivalent Enhancer	Fetal Lung	lung
50	chr16:73099800-73100200	Flanking Active TSS	Pancreas	Pancrea

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