Variant report

Variant	rs12504287
Chromosome Location	chr4:56047669-56047670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10012700	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10016792	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10019018	0.93[EUR][1000 genomes]
rs10030224	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10213072	0.84[EUR][1000 genomes]
rs11133363	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11133364	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11133365	0.90[EUR][1000 genomes]
rs12152606	0.84[EUR][1000 genomes]
rs12509589	0.90[EUR][1000 genomes]
rs12645088	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12716020	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12716021	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13107781	0.90[EUR][1000 genomes]
rs13115127	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13139198	0.89[EUR][1000 genomes]
rs13143119	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13143543	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1380072	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1380073	0.84[EUR][1000 genomes]
rs1551636	0.90[EUR][1000 genomes]
rs1551637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1551638	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17081850	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17081852	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17081854	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17081857	0.84[EUR][1000 genomes]
rs1870376	0.80[EUR][1000 genomes]
rs1870381	0.90[EUR][1000 genomes]
rs1870382	0.90[EUR][1000 genomes]
rs1993583	0.80[EUR][1000 genomes]
rs1993584	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1993585	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1993586	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2015048	0.84[EUR][1000 genomes]
rs2085619	0.80[AFR][1000 genomes]
rs2085620	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2085621	0.84[EUR][1000 genomes]
rs2125486	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2125487	0.80[EUR][1000 genomes]
rs2125488	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2899030	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3986296	0.80[EUR][1000 genomes]
rs4241993	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4277836	0.84[EUR][1000 genomes]
rs4304028	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4458511	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4864960	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4864961	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6554240	0.80[EUR][1000 genomes]
rs6554241	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6554242	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6810735	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6812621	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6852640	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6853855	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs733378	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7435539	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7696873	0.84[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56036000-56050600	Weak transcription	Pancreas	Pancrea
2	chr4:56042400-56049800	Weak transcription	HSMM	muscle
3	chr4:56042600-56050600	Weak transcription	Placenta	Placenta
4	chr4:56042800-56050200	Weak transcription	Lung	lung
5	chr4:56042800-56050200	Weak transcription	Hela-S3	cervix
6	chr4:56044200-56050600	Weak transcription	Right Atrium	heart
7	chr4:56044600-56051200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:56044800-56047800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:56046800-56054200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:56047000-56047800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:56047000-56047800	Enhancers	NHDF-Ad	bronchial
12	chr4:56047000-56048000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:56047000-56048000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:56047000-56049000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:56047000-56049200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:56047000-56049400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:56047200-56047800	Enhancers	Brain Germinal Matrix	brain
18	chr4:56047200-56048000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:56047200-56048000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr4:56047200-56048000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:56047200-56048000	Enhancers	Aorta	Aorta
22	chr4:56047200-56048000	Enhancers	Fetal Muscle Leg	muscle
23	chr4:56047200-56048000	Enhancers	Left Ventricle	heart
24	chr4:56047200-56048200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:56047200-56048200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:56047200-56048400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr4:56047200-56048400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:56047200-56048400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:56047200-56048400	Enhancers	Osteobl	bone
30	chr4:56047400-56047800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:56047400-56048000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:56047400-56048000	Enhancers	Fetal Lung	lung
33	chr4:56047400-56048000	Enhancers	HSMMtube	muscle
34	chr4:56047400-56048000	Enhancers	NHLF	lung
35	chr4:56047400-56048200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:56047400-56048200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:56047400-56048400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:56047400-56048800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:56047600-56047800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:56047600-56047800	Flanking Active TSS	HUVEC	blood vessel
41	chr4:56047600-56047800	Enhancers	NH-A	brain
42	chr4:56047600-56048000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:56047600-56048600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:56047600-56049000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:56047600-56050200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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