Variant report

Variant	rs73443780
Chromosome Location	chr9:72070237-72070238
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	chr9:72068242..72070671-chr9:72077608..72079150,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11139526	1.00[AMR][1000 genomes]
rs12336988	1.00[AMR][1000 genomes]
rs57840127	1.00[AMR][1000 genomes]
rs58330455	1.00[AMR][1000 genomes]
rs58444973	1.00[AMR][1000 genomes]
rs59971271	1.00[AMR][1000 genomes]
rs73443764	1.00[AMR][1000 genomes]
rs73443775	1.00[AMR][1000 genomes]
rs73443781	1.00[AMR][1000 genomes]
rs73443790	1.00[AMR][1000 genomes]
rs73447315	1.00[AMR][1000 genomes]
rs73449410	1.00[AMR][1000 genomes]
rs73449429	1.00[AMR][1000 genomes]
rs73449430	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1048650	chr9:72028458-72179847	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1052872	chr9:72040184-72081554	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037109	chr9:72040184-72120270	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1039966	chr9:72057304-72181564	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72036600-72082600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:72042000-72070400	Weak transcription	Spleen	Spleen
3	chr9:72044200-72084400	Weak transcription	Fetal Intestine Small	intestine
4	chr9:72045000-72084400	Weak transcription	Fetal Intestine Large	intestine
5	chr9:72046400-72085600	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:72047000-72081800	Weak transcription	Fetal Kidney	kidney
7	chr9:72054000-72073200	Weak transcription	Right Ventricle	heart
8	chr9:72055200-72073000	Strong transcription	Liver	Liver
9	chr9:72056000-72082600	Weak transcription	Pancreas	Pancrea
10	chr9:72056400-72080800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:72058200-72080200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr9:72058400-72070600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr9:72059400-72072400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:72059400-72080200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:72061200-72071400	Strong transcription	Brain Germinal Matrix	brain
16	chr9:72062200-72072600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:72062800-72072400	Strong transcription	Ovary	ovary
18	chr9:72064600-72084200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:72064600-72084200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr9:72064800-72071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:72064800-72083800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:72065800-72071400	Strong transcription	Fetal Brain Female	brain
23	chr9:72066200-72071400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:72066200-72081000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:72066400-72075400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr9:72066800-72075000	Weak transcription	Fetal Brain Male	brain
27	chr9:72067400-72070400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:72067400-72078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:72067600-72080800	Weak transcription	NHDF-Ad	bronchial
30	chr9:72067800-72080800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr9:72068000-72070800	Weak transcription	Fetal Lung	lung
32	chr9:72068600-72070800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr9:72068600-72071400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:72068800-72070600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr9:72068800-72070800	Enhancers	Fetal Thymus	thymus
36	chr9:72068800-72071400	Strong transcription	Brain Anterior Caudate	brain
37	chr9:72068800-72071400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr9:72068800-72072000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr9:72069000-72080600	Weak transcription	Left Ventricle	heart
40	chr9:72069400-72071400	Strong transcription	Adipose Nuclei	Adipose
41	chr9:72069400-72072600	Strong transcription	Aorta	Aorta
42	chr9:72069600-72070800	Strong transcription	Gastric	stomach
43	chr9:72069600-72071000	Strong transcription	Fetal Muscle Leg	muscle
44	chr9:72069600-72071600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:72069600-72071800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:72070000-72070400	Enhancers	Brain Cingulate Gyrus	brain
47	chr9:72070000-72070600	Genic enhancers	Brain Hippocampus Middle	brain
48	chr9:72070000-72070600	Genic enhancers	Brain Inferior Temporal Lobe	brain
49	chr9:72070000-72070600	Genic enhancers	Brain Substantia Nigra	brain
50	chr9:72070000-72070800	Genic enhancers	Brain Angular Gyrus	brain

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