Variant report

Variant	rs7687183
Chromosome Location	chr4:121773816-121773817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11944593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13108542	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17051272	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17051273	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17417539	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs186905	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3114954	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3115310	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34371247	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34698926	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35774122	0.81[EUR][1000 genomes]
rs56235391	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62323161	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7663873	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7681598	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121755800-121774600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:121756800-121779800	Weak transcription	Aorta	Aorta
3	chr4:121758200-121774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:121759600-121775400	Weak transcription	Gastric	stomach
5	chr4:121760400-121775800	Weak transcription	Lung	lung
6	chr4:121761200-121778200	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:121761200-121783600	Weak transcription	Pancreas	Pancrea
8	chr4:121761400-121774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:121761400-121777600	Weak transcription	Left Ventricle	heart
10	chr4:121763400-121778800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:121763600-121776600	Weak transcription	Fetal Stomach	stomach
12	chr4:121763800-121776600	Weak transcription	Fetal Heart	heart
13	chr4:121765800-121786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:121766000-121776600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:121766000-121786600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:121766200-121790800	Weak transcription	Ovary	ovary
17	chr4:121766400-121776600	Weak transcription	Fetal Intestine Large	intestine
18	chr4:121769000-121774600	Weak transcription	Fetal Kidney	kidney
19	chr4:121769000-121779600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:121769200-121779600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:121771000-121777000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:121771400-121781200	Weak transcription	HSMM	muscle
23	chr4:121771600-121774200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:121771600-121774400	Weak transcription	NHLF	lung
25	chr4:121771600-121783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:121771800-121774000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:121771800-121774000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:121771800-121774000	Weak transcription	Osteobl	bone
29	chr4:121771800-121774400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:121771800-121774800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:121771800-121779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:121771800-121786800	Weak transcription	Fetal Lung	lung
33	chr4:121772200-121774000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:121772200-121774000	Weak transcription	NHDF-Ad	bronchial
35	chr4:121772200-121774400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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