Variant report

Variant	rs7405247
Chromosome Location	chr16:73101031-73101032
allele	A/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:

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

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

rs_ID	r²[population]
rs1075855	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2285394	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6416748	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499607	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs739414	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7404072	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7405169	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8048267	0.90[EUR][1000 genomes];0.86[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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73097200-73101400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
2	chr16:73097800-73101400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr16:73097800-73102000	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr16:73098600-73103000	Enhancers	Lung	lung
5	chr16:73099000-73101200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr16:73099000-73101400	Weak transcription	HSMMtube	muscle
7	chr16:73099000-73102000	Enhancers	Hela-S3	cervix
8	chr16:73099000-73103400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:73099200-73101400	Weak transcription	HSMM	muscle
10	chr16:73099600-73101200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:73099600-73101200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:73099600-73101200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr16:73099600-73102000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:73099800-73101200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr16:73099800-73101200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
16	chr16:73099800-73101400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:73099800-73101400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:73099800-73101400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
19	chr16:73099800-73103400	Enhancers	NHDF-Ad	bronchial
20	chr16:73099800-73103600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr16:73100000-73101400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr16:73100000-73101400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr16:73100000-73102600	Enhancers	HUVEC	blood vessel
24	chr16:73100000-73104200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:73100200-73101400	Weak transcription	Osteobl	bone
26	chr16:73100200-73101600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr16:73100200-73101800	Enhancers	Pancreas	Pancrea
28	chr16:73100200-73101800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr16:73100200-73102200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr16:73100200-73103400	Enhancers	Psoas Muscle	Psoas
31	chr16:73100400-73101200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr16:73100400-73101200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr16:73100400-73101400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
34	chr16:73100400-73101800	Bivalent Enhancer	Fetal Heart	heart
35	chr16:73100400-73103400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:73100400-73103600	Enhancers	Liver	Liver
37	chr16:73100400-73103600	Enhancers	Fetal Lung	lung
38	chr16:73100600-73101200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr16:73100600-73101200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr16:73100600-73101200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
41	chr16:73100600-73101400	Enhancers	Gastric	stomach
42	chr16:73100600-73101400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr16:73100600-73103000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr16:73100800-73101200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr16:73100800-73101200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr16:73100800-73101200	Flanking Active TSS	NHLF	lung
47	chr16:73100800-73101400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr16:73100800-73101400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:73100800-73101400	Bivalent Enhancer	Adipose Nuclei	Adipose
50	chr16:73100800-73101600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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