Variant report

Variant	rs59333816
Chromosome Location	chr7:80544916-80544917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:80543575..80545445-chr7:81076892..81078941,2	MCF-7	breast:
2	chr7:80449709..80452488-chr7:80543007..80545728,2	MCF-7	breast:
3	chr7:80543603..80546047-chr7:81084667..81087154,2	MCF-7	breast:
4	chr7:80539282..80541776-chr7:80542626..80545586,2	K562	blood:
5	chr7:80543196..80546765-chr7:80879476..80881407,3	MCF-7	breast:
6	chr7:80504329..80507281-chr7:80544087..80545710,2	MCF-7	breast:
7	chr7:80543846..80546198-chr7:81078682..81080792,2	MCF-7	breast:
8	chr7:80541697..80545590-chr7:80928288..80931909,4	MCF-7	breast:

No data

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11772505	0.96[EUR][1000 genomes]
rs11979430	0.81[EUR][1000 genomes]
rs12669508	0.81[EUR][1000 genomes]
rs17154589	0.84[ASN][1000 genomes]
rs17154592	1.00[EUR][1000 genomes]
rs55740131	0.96[EUR][1000 genomes]
rs59069438	1.00[EUR][1000 genomes]
rs73376611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73709354	0.81[EUR][1000 genomes]
rs73709364	1.00[EUR][1000 genomes]
rs7779029	0.81[EUR][1000 genomes]
rs7793465	0.81[EUR][1000 genomes]
rs9641941	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9641942	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80515000-80546400	Weak transcription	Left Ventricle	heart
2	chr7:80520800-80546000	Weak transcription	Ovary	ovary
3	chr7:80525000-80546000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:80525600-80547600	Weak transcription	Gastric	stomach
5	chr7:80526200-80546600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:80526400-80547800	Weak transcription	Lung	lung
7	chr7:80527000-80546000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:80530000-80547400	Weak transcription	Brain Angular Gyrus	brain
9	chr7:80530400-80546400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:80530600-80546400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:80532400-80545400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:80534200-80546400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:80535200-80546400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:80535200-80546400	Weak transcription	Brain Substantia Nigra	brain
15	chr7:80535400-80545400	Weak transcription	HSMMtube	muscle
16	chr7:80535400-80546600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:80535800-80545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:80538000-80546000	Weak transcription	Fetal Lung	lung
19	chr7:80538000-80546400	Weak transcription	Psoas Muscle	Psoas
20	chr7:80538200-80546000	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:80538600-80545600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:80538800-80545400	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr7:80538800-80546000	Strong transcription	HSMM	muscle
24	chr7:80539600-80545200	Genic enhancers	HMEC	breast
25	chr7:80539600-80546000	Strong transcription	NH-A	brain
26	chr7:80539800-80546000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:80540000-80546000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:80540400-80546000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:80541400-80546600	Weak transcription	Fetal Kidney	kidney
30	chr7:80541600-80545000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:80542200-80545400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:80542200-80548000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:80542800-80545600	Strong transcription	Osteobl	bone
34	chr7:80542800-80545800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr7:80542800-80546000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:80542800-80547000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:80543000-80545600	Genic enhancers	NHEK	skin
38	chr7:80543000-80546200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:80543000-80546600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
40	chr7:80543400-80545400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr7:80543400-80546600	Weak transcription	Aorta	Aorta
42	chr7:80543800-80545400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:80544000-80545000	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:80544200-80545200	Genic enhancers	Adipose Nuclei	Adipose
45	chr7:80544400-80545000	Genic enhancers	A549	lung
46	chr7:80544400-80545200	Genic enhancers	NHDF-Ad	bronchial
47	chr7:80544400-80545400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:80544400-80545400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:80544400-80545400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:80544400-80545400	Enhancers	Colon Smooth Muscle	Colon

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