Variant report

Variant	rs72718970
Chromosome Location	chr9:73189404-73189405
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	chr9:73024853..73027503-chr9:73188981..73191128,2	MCF-7	breast:
2	chr9:73033892..73035832-chr9:73188677..73192250,3	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62543301	1.00[AFR][1000 genomes]
rs72716543	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428219	chr9:73006269-73192535	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv831616	chr9:73077855-73220928	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73157800-73199800	Weak transcription	Aorta	Aorta
2	chr9:73187000-73192600	Weak transcription	Fetal Intestine Small	intestine
3	chr9:73187000-73193600	Weak transcription	Fetal Intestine Large	intestine
4	chr9:73187800-73189800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:73187800-73189800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:73188200-73190200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:73188200-73190400	Enhancers	Brain Substantia Nigra	brain
8	chr9:73188200-73192600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:73188400-73189800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:73188400-73190000	Enhancers	Right Atrium	heart
11	chr9:73188400-73190800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:73188400-73193200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:73188400-73195600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr9:73188600-73189600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:73188600-73190200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:73188600-73190200	Enhancers	Colon Smooth Muscle	Colon
17	chr9:73188600-73190600	Enhancers	Osteobl	bone
18	chr9:73188800-73189600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:73188800-73189600	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:73188800-73189600	Enhancers	Rectal Smooth Muscle	rectum
21	chr9:73188800-73189800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr9:73188800-73189800	Enhancers	Brain Anterior Caudate	brain
23	chr9:73188800-73189800	Enhancers	Brain Cingulate Gyrus	brain
24	chr9:73188800-73189800	Enhancers	Fetal Lung	lung
25	chr9:73188800-73189800	Enhancers	Stomach Smooth Muscle	stomach
26	chr9:73188800-73190400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr9:73188800-73193000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:73188800-73193000	Enhancers	NHDF-Ad	bronchial
29	chr9:73189000-73189600	Enhancers	NH-A	brain
30	chr9:73189000-73189800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:73189000-73189800	Enhancers	Fetal Kidney	kidney
32	chr9:73189000-73189800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr9:73189000-73189800	Enhancers	NHLF	lung
34	chr9:73189000-73190000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:73189000-73190200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr9:73189000-73192000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:73189000-73193400	Weak transcription	Pancreas	Pancrea
38	chr9:73189200-73189600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr9:73189200-73189800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:73189200-73189800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr9:73189200-73189800	Enhancers	Fetal Muscle Leg	muscle
42	chr9:73189200-73191800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr9:73189200-73194000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:73189400-73190200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:73189400-73191800	Weak transcription	Adipose Nuclei	Adipose
46	chr9:73189400-73192000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:73189400-73192000	Weak transcription	Psoas Muscle	Psoas
48	chr9:73189400-73192200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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