Variant report

Variant	rs11133288
Chromosome Location	chr4:54630659-54630660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1013508	0.92[EUR][1000 genomes]
rs1013509	0.89[EUR][1000 genomes]
rs11133286	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11133287	0.92[EUR][1000 genomes]
rs11726943	0.88[ASN][1000 genomes]
rs12645847	0.96[ASN][1000 genomes]
rs12646885	0.84[EUR][1000 genomes]
rs2412496	0.92[EUR][1000 genomes]
rs2590764	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2590765	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2590766	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2616432	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4305579	0.88[ASN][1000 genomes]
rs55705508	0.94[ASN][1000 genomes]
rs56061807	0.89[EUR][1000 genomes]
rs67780867	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6819547	0.93[AFR][1000 genomes]
rs6829218	0.94[ASN][1000 genomes]
rs6850939	0.85[EUR][1000 genomes]
rs6851383	0.90[ASN][1000 genomes]
rs7686706	0.92[EUR][1000 genomes]
rs7699690	0.84[ASN][1000 genomes]
rs872968	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[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	nsv879015	chr4:54596466-54665559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv527672	chr4:54626228-54637201	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54629200-54631200	Enhancers	NHDF-Ad	bronchial
2	chr4:54629200-54631800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:54629200-54634400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:54629400-54631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:54629400-54631800	Enhancers	Ovary	ovary
6	chr4:54629400-54633800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:54629600-54630800	Enhancers	Aorta	Aorta
8	chr4:54629600-54631000	Enhancers	Placenta	Placenta
9	chr4:54629600-54631600	Enhancers	HSMMtube	muscle
10	chr4:54629600-54631800	Enhancers	HSMM	muscle
11	chr4:54629600-54631800	Enhancers	NH-A	brain
12	chr4:54629600-54632000	Enhancers	Fetal Stomach	stomach
13	chr4:54629800-54630800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:54629800-54630800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:54630000-54631800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr4:54630200-54630800	Bivalent Enhancer	Fetal Lung	lung
17	chr4:54630200-54631000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:54630200-54631600	Enhancers	Colon Smooth Muscle	Colon
19	chr4:54630200-54632200	Enhancers	Fetal Kidney	kidney
20	chr4:54630400-54630800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:54630400-54630800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:54630400-54630800	Enhancers	Right Ventricle	heart
23	chr4:54630400-54630800	Enhancers	Spleen	Spleen
24	chr4:54630400-54630800	Flanking Active TSS	NHLF	lung
25	chr4:54630400-54631000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:54630400-54631000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:54630400-54631000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:54630400-54631400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:54630400-54632000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:54630600-54630800	Enhancers	Osteobl	bone
31	chr4:54630600-54631000	Enhancers	Brain Germinal Matrix	brain
32	chr4:54630600-54631200	Enhancers	A549	lung
33	chr4:54630600-54632400	Weak transcription	HMEC	breast

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