Variant report

Variant	rs2125487
Chromosome Location	chr4:56039779-56039780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10012700	0.80[EUR][1000 genomes]
rs10016924	0.98[EUR][1000 genomes]
rs10030224	0.80[EUR][1000 genomes]
rs11133366	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11723072	0.88[EUR][1000 genomes]
rs11727226	0.98[EUR][1000 genomes]
rs11729926	0.98[EUR][1000 genomes]
rs12503240	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12504287	0.80[EUR][1000 genomes]
rs1380072	0.80[EUR][1000 genomes]
rs1458827	0.98[EUR][1000 genomes]
rs1458828	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1458833	0.98[EUR][1000 genomes]
rs1531293	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1551637	0.80[EUR][1000 genomes]
rs1551638	0.80[EUR][1000 genomes]
rs17081850	0.80[EUR][1000 genomes]
rs17081852	0.80[EUR][1000 genomes]
rs17081854	0.80[EUR][1000 genomes]
rs1870376	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1993583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2125486	0.80[EUR][1000 genomes]
rs2125488	0.80[EUR][1000 genomes]
rs2199112	0.98[EUR][1000 genomes]
rs2899026	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3986296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4241993	0.80[EUR][1000 genomes]
rs4458511	0.80[EUR][1000 genomes]
rs4864961	0.80[EUR][1000 genomes]
rs6554239	0.83[AFR][1000 genomes]
rs6554240	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6554241	0.80[EUR][1000 genomes]
rs6554242	0.80[EUR][1000 genomes]
rs6857734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs733378	0.80[EUR][1000 genomes]
rs7440123	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9991746	0.90[AMR][1000 genomes];0.98[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	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56035800-56042200	Weak transcription	Right Atrium	heart
2	chr4:56036000-56050600	Weak transcription	Pancreas	Pancrea
3	chr4:56036200-56041800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:56036200-56044400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:56036800-56044600	Weak transcription	Stomach Mucosa	stomach
6	chr4:56037800-56042200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:56038000-56039800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:56038200-56039800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:56038200-56040000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:56038600-56040000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:56038600-56040200	Enhancers	Hela-S3	cervix
12	chr4:56038600-56040200	Enhancers	NH-A	brain
13	chr4:56038600-56040600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:56038600-56041600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:56038600-56041600	Enhancers	NHDF-Ad	bronchial
16	chr4:56038800-56040000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:56038800-56040000	Enhancers	HMEC	breast
18	chr4:56038800-56040000	Enhancers	NHEK	skin
19	chr4:56038800-56042000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:56039000-56040200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:56039000-56040200	Enhancers	NHLF	lung
22	chr4:56039000-56040400	Enhancers	Osteobl	bone
23	chr4:56039200-56039800	Enhancers	Adipose Nuclei	Adipose
24	chr4:56039200-56040200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:56039200-56040800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:56039200-56041800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:56039200-56041800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:56039400-56041600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:56039400-56041600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:56039400-56041800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:56039400-56042200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:56039400-56043800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:56039600-56040200	Enhancers	HSMM	muscle
34	chr4:56039600-56040800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:56039600-56041400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:56039600-56041600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:56039600-56041600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:56039600-56041600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:56039600-56041600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:56039600-56042000	Enhancers	HUVEC	blood vessel
41	chr4:56039600-56042200	Weak transcription	Placenta	Placenta
42	chr4:56039600-56043800	Weak transcription	Fetal Muscle Leg	muscle

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