Variant report

Variant	rs11729598
Chromosome Location	chr4:20607622-20607623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61790714	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61790715	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8663	0.89[EUR][1000 genomes]
rs9070	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829875	chr4:20502895-20680956	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	89 gene(s)	inside rSNPs	diseases
2	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised 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
3	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
2	chr4:20567200-20617000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:20578000-20617400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:20578200-20616800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:20578400-20610000	Weak transcription	Fetal Brain Male	brain
6	chr4:20589200-20610600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:20589200-20620800	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:20590000-20620400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:20590800-20618400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:20591400-20617000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:20593000-20619000	Weak transcription	Placenta	Placenta
12	chr4:20594400-20619000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:20594800-20620600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:20597800-20624600	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:20598400-20615000	Weak transcription	Fetal Stomach	stomach
16	chr4:20598600-20619200	Weak transcription	Ovary	ovary
17	chr4:20600400-20614800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:20600400-20619000	Weak transcription	Fetal Kidney	kidney
19	chr4:20600600-20610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:20600600-20617200	Weak transcription	Aorta	Aorta
21	chr4:20600800-20614800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:20600800-20616600	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:20600800-20619000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:20604600-20617000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:20605800-20608400	Weak transcription	NHDF-Ad	bronchial
26	chr4:20605800-20610400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:20606000-20617000	Strong transcription	Fetal Lung	lung
28	chr4:20606200-20616600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:20606400-20611600	Weak transcription	Osteobl	bone
30	chr4:20606400-20616800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:20606400-20617000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:20606800-20610400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:20607200-20608400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:20607400-20608000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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