Variant report

Variant	rs4744980
Chromosome Location	chr9:72743646-72743647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10114223	0.83[AMR][1000 genomes]
rs10511981	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10735584	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1927108	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1927109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1927112	1.00[EUR][1000 genomes]
rs1927114	0.93[EUR][1000 genomes]
rs1927123	0.93[EUR][1000 genomes]
rs1927140	0.83[AMR][1000 genomes]
rs1927141	0.83[AMR][1000 genomes]
rs1927146	0.83[AMR][1000 genomes]
rs1998972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2148854	0.83[AMR][1000 genomes]
rs2148855	0.83[AMR][1000 genomes]
rs2148860	0.98[EUR][1000 genomes]
rs2209781	0.83[AMR][1000 genomes]
rs2309601	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2309637	0.83[AMR][1000 genomes]
rs4744587	0.84[EUR][1000 genomes]
rs4744985	0.93[EUR][1000 genomes]
rs7020575	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7848955	0.93[EUR][1000 genomes]
rs7857325	1.00[EUR][1000 genomes]
rs7865289	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs943538	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72722000-72758400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:72725600-72745200	Weak transcription	Lung	lung
3	chr9:72725800-72764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:72726200-72749200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:72727200-72746600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:72728200-72752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:72728200-72758400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:72728600-72746800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:72729200-72744800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:72731200-72768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:72733200-72745000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:72733800-72748400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:72736200-72745000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:72736200-72746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:72736200-72747400	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:72736200-72748800	Weak transcription	Fetal Brain Female	brain
19	chr9:72736200-72761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr9:72736600-72744600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:72737000-72744200	Strong transcription	Colon Smooth Muscle	Colon
22	chr9:72737000-72748000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr9:72737200-72745200	Strong transcription	HSMMtube	muscle
24	chr9:72738200-72750400	Weak transcription	Fetal Intestine Small	intestine
25	chr9:72739000-72749000	Weak transcription	Gastric	stomach
26	chr9:72740200-72746200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:72740400-72750000	Weak transcription	NH-A	brain
28	chr9:72740600-72766400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:72740800-72744000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:72741000-72745200	Weak transcription	Fetal Intestine Large	intestine
31	chr9:72741000-72758600	Weak transcription	Colonic Mucosa	Colon
32	chr9:72741400-72744600	Weak transcription	NHEK	skin
33	chr9:72741400-72765600	Weak transcription	Esophagus	oesophagus
34	chr9:72741600-72744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:72741600-72744800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:72741600-72744800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:72741600-72745000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:72741600-72747400	Weak transcription	HSMM	muscle
39	chr9:72741600-72749400	Weak transcription	Fetal Stomach	stomach
40	chr9:72741600-72751600	Weak transcription	NHLF	lung
41	chr9:72741600-72755000	Weak transcription	Left Ventricle	heart
42	chr9:72741600-72757400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr9:72741600-72775400	Weak transcription	Adipose Nuclei	Adipose
44	chr9:72741600-72789400	Weak transcription	Spleen	Spleen
45	chr9:72742200-72747800	Weak transcription	NHDF-Ad	bronchial
46	chr9:72742400-72744800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr9:72742400-72748200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:72742800-72748800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:72743000-72744800	Weak transcription	Fetal Heart	heart
50	chr9:72743000-72754800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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