Variant report

Variant	rs59069438
Chromosome Location	chr7:80538174-80538175
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:59600906..59603587-chr7:80536974..80538941,2	MCF-7	breast:
2	chr7:80538101..80540663-chr7:81085003..81087323,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11772505	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979430	0.81[EUR][1000 genomes]
rs12669508	0.81[EUR][1000 genomes]
rs17154592	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740131	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125951	0.82[AFR][1000 genomes]
rs56749577	0.83[AFR][1000 genomes]
rs58168478	0.85[AFR][1000 genomes]
rs58594345	0.87[AFR][1000 genomes]
rs59333816	1.00[EUR][1000 genomes]
rs60547338	0.83[AFR][1000 genomes]
rs73376611	1.00[EUR][1000 genomes]
rs73376616	1.00[ASN][1000 genomes]
rs73376617	1.00[ASN][1000 genomes]
rs73376678	1.00[ASN][1000 genomes]
rs73709354	0.81[EUR][1000 genomes]
rs73709356	0.90[AFR][1000 genomes]
rs73709358	0.80[AFR][1000 genomes]
rs73709359	0.87[AFR][1000 genomes]
rs73709360	0.87[AFR][1000 genomes]
rs73709361	0.87[AFR][1000 genomes]
rs73709362	0.87[AFR][1000 genomes]
rs73709364	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779029	0.81[EUR][1000 genomes]
rs7779457	0.83[AFR][1000 genomes]
rs7781226	0.83[AFR][1000 genomes]
rs7793465	0.81[EUR][1000 genomes]
rs9641941	1.00[EUR][1000 genomes]
rs9641942	1.00[EUR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80515000-80546400	Weak transcription	Left Ventricle	heart
2	chr7:80517800-80544600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:80520800-80546000	Weak transcription	Ovary	ovary
4	chr7:80525000-80546000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:80525600-80547600	Weak transcription	Gastric	stomach
6	chr7:80526200-80546600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:80526400-80547800	Weak transcription	Lung	lung
8	chr7:80527000-80546000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:80530000-80547400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:80530400-80546400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:80530600-80546400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:80531600-80542400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:80532400-80544600	Weak transcription	Fetal Intestine Large	intestine
14	chr7:80532400-80545400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:80532600-80544600	Weak transcription	Fetal Intestine Small	intestine
16	chr7:80533000-80544600	Weak transcription	Fetal Stomach	stomach
17	chr7:80534200-80541200	Weak transcription	NHEK	skin
18	chr7:80534200-80544000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:80534200-80546400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:80534800-80538200	Enhancers	Fetal Brain Male	brain
21	chr7:80535000-80544600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:80535200-80539200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:80535200-80539400	Weak transcription	NHDF-Ad	bronchial
24	chr7:80535200-80541000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:80535200-80542800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:80535200-80543000	Weak transcription	NHLF	lung
27	chr7:80535200-80546400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:80535200-80546400	Weak transcription	Brain Substantia Nigra	brain
29	chr7:80535400-80542000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:80535400-80543200	Weak transcription	Adipose Nuclei	Adipose
31	chr7:80535400-80545400	Weak transcription	HSMMtube	muscle
32	chr7:80535400-80546600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:80535800-80542800	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:80535800-80545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:80536400-80538400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:80536400-80540400	Enhancers	A549	lung
37	chr7:80536600-80538400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:80537000-80538200	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr7:80537000-80539600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:80537000-80539600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:80537000-80539600	Weak transcription	NH-A	brain
42	chr7:80537000-80542000	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:80537000-80543200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:80537200-80538600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:80537200-80540600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:80537200-80543000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:80537200-80544000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:80537600-80538200	Active TSS	Brain Hippocampus Middle	brain
49	chr7:80537600-80538200	Active TSS	Right Atrium	heart
50	chr7:80537600-80538200	Strong transcription	Osteobl	bone

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