Variant report

Variant	rs9750479
Chromosome Location	chr2:110295473-110295474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28372574	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28699105	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2903538	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4953757	0.96[AMR][1000 genomes]
rs4953758	0.92[AMR][1000 genomes]
rs4953759	0.92[AMR][1000 genomes]
rs4953839	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4953852	1.00[AMR][1000 genomes]
rs56822430	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6751928	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72938251	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7423621	0.86[EUR][1000 genomes]
rs9750451	0.93[EUR][1000 genomes]
rs9751290	0.89[EUR][1000 genomes]
rs9798472	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2874	chr2:110289373-110333621	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110285000-110299200	Weak transcription	Aorta	Aorta
2	chr2:110288000-110299000	Weak transcription	Esophagus	oesophagus
3	chr2:110291000-110309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:110291400-110295800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:110291400-110295800	Weak transcription	Fetal Kidney	kidney
6	chr2:110291800-110309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:110292400-110296400	Enhancers	HSMMtube	muscle
8	chr2:110293200-110302600	Weak transcription	Fetal Lung	lung
9	chr2:110293200-110316200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:110293400-110295600	Weak transcription	Ovary	ovary
11	chr2:110293400-110296000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:110293400-110297400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:110293400-110299000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:110293400-110299200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:110293400-110299200	Weak transcription	Pancreas	Pancrea
16	chr2:110293400-110299200	Weak transcription	HSMM	muscle
17	chr2:110293400-110301200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:110293400-110303200	Weak transcription	NHLF	lung
19	chr2:110293400-110304000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:110293400-110309400	Weak transcription	Left Ventricle	heart
21	chr2:110293400-110309600	Weak transcription	Lung	lung
22	chr2:110293400-110309600	Weak transcription	NHDF-Ad	bronchial
23	chr2:110293400-110331600	Weak transcription	Right Ventricle	heart
24	chr2:110293400-110352200	Weak transcription	Gastric	stomach
25	chr2:110293600-110295600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:110293600-110299000	Weak transcription	Fetal Intestine Small	intestine
27	chr2:110293600-110302600	Weak transcription	Fetal Intestine Large	intestine
28	chr2:110293600-110302600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:110293600-110309400	Weak transcription	Liver	Liver
30	chr2:110294000-110299000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:110295000-110296200	Enhancers	HepG2	liver
32	chr2:110295400-110295600	Enhancers	Fetal Muscle Trunk	muscle
33	chr2:110295400-110295600	Enhancers	Osteobl	bone
34	chr2:110295400-110295800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:110295400-110296000	Enhancers	Stomach Mucosa	stomach
36	chr2:110295400-110302600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:110295400-110302800	Weak transcription	HMEC	breast

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