Variant report

Variant	rs73449496
Chromosome Location	chr9:72725908-72725909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72586526..72587567-chr9:72725652..72726529,9	MCF-7	breast:
2	chr9:72723556..72726029-chr9:72727042..72729559,2	K562	blood:
3	chr9:72586692..72587617-chr9:72725591..72726665,4	MCF-7	breast:
4	chr9:72586536..72587505-chr9:72725613..72726553,4	K562	blood:

Variant related genes	Relation type
ENSG00000204706	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs35534839	1.00[AMR][1000 genomes]
rs59725916	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60072761	1.00[AMR][1000 genomes]
rs73446762	1.00[AMR][1000 genomes]
rs73446764	1.00[AMR][1000 genomes]
rs73446777	1.00[AMR][1000 genomes]
rs73446778	1.00[AMR][1000 genomes]
rs73446779	1.00[AMR][1000 genomes]
rs73446793	1.00[AMR][1000 genomes]
rs73448646	1.00[AMR][1000 genomes]
rs73448651	1.00[AMR][1000 genomes]
rs73448660	1.00[AMR][1000 genomes]
rs73448663	1.00[AMR][1000 genomes]
rs73448670	1.00[AMR][1000 genomes]
rs73448904	1.00[AMR][1000 genomes]
rs73451455	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452732	1.00[AMR][1000 genomes]
rs73452740	1.00[AMR][1000 genomes]
rs73452742	1.00[AMR][1000 genomes]
rs73452745	1.00[AMR][1000 genomes]
rs73452756	1.00[AMR][1000 genomes]
rs73454766	1.00[AMR][1000 genomes]
rs73454769	1.00[AMR][1000 genomes]
rs73456610	1.00[AMR][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	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv949052	chr9:72698039-72741247	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72707400-72726800	Weak transcription	Pancreas	Pancrea
2	chr9:72713800-72728200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:72714800-72742400	Weak transcription	Aorta	Aorta
4	chr9:72721000-72726800	Weak transcription	Esophagus	oesophagus
5	chr9:72722000-72729600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:72722000-72758400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:72723200-72728400	Genic enhancers	Colon Smooth Muscle	Colon
8	chr9:72724200-72729200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:72724400-72726000	Genic enhancers	HSMMtube	muscle
10	chr9:72724400-72742600	Weak transcription	Right Ventricle	heart
11	chr9:72724600-72727000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:72724800-72726000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
13	chr9:72724800-72726200	Enhancers	Brain Germinal Matrix	brain
14	chr9:72724800-72727000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:72725000-72726400	Enhancers	Fetal Muscle Leg	muscle
16	chr9:72725000-72726800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:72725000-72726800	Enhancers	Rectal Smooth Muscle	rectum
18	chr9:72725000-72727200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:72725000-72728800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:72725000-72728800	Genic enhancers	Stomach Smooth Muscle	stomach
21	chr9:72725200-72726000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:72725200-72726000	Enhancers	Adipose Nuclei	Adipose
23	chr9:72725200-72726000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr9:72725200-72726000	Enhancers	NHDF-Ad	bronchial
25	chr9:72725200-72726000	Enhancers	NHLF	lung
26	chr9:72725200-72726200	Enhancers	NHEK	skin
27	chr9:72725200-72727000	Genic enhancers	Ovary	ovary
28	chr9:72725200-72728600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:72725200-72728800	Enhancers	HMEC	breast
30	chr9:72725200-72735800	Weak transcription	Fetal Brain Male	brain
31	chr9:72725400-72726000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr9:72725400-72726000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr9:72725400-72726000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr9:72725400-72726000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:72725400-72726000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr9:72725400-72726000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:72725400-72726000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:72725400-72726000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:72725400-72726000	Enhancers	Primary B cells from peripheral blood	blood
40	chr9:72725400-72726000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr9:72725400-72726000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:72725400-72726200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:72725400-72726200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr9:72725400-72726200	Enhancers	Fetal Muscle Trunk	muscle
45	chr9:72725400-72726600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:72725400-72728400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:72725600-72726000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:72725600-72726000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr9:72725600-72726000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:72725600-72726000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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