Variant report

Variant	rs11183644
Chromosome Location	chr12:47286023-47286024
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10881004	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10881008	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10881009	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10881013	0.81[CHB][hapmap]
rs11183625	0.89[CEU][hapmap];0.93[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11183630	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11183643	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183661	0.84[CEU][hapmap];0.81[CHB][hapmap];0.85[AFR][1000 genomes]
rs12229470	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17684703	1.00[YRI][hapmap]
rs1986584	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2263487	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2465208	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2465210	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2465211	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2465213	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3989940	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4374015	0.89[CEU][hapmap];0.93[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4405401	0.85[AFR][1000 genomes]
rs4495962	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7137439	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7137808	0.85[AFR][1000 genomes]
rs7298017	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7953233	0.92[CHB][hapmap]
rs7962539	0.80[AFR][1000 genomes]
rs7963326	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7975211	0.85[AFR][1000 genomes]
rs7976518	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7978950	0.80[AFR][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	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47281000-47290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47284800-47286800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:47284800-47287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:47284800-47287600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:47285000-47286400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:47285200-47298400	Weak transcription	HSMM	muscle
7	chr12:47285400-47286400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:47285400-47286400	Weak transcription	Osteobl	bone
9	chr12:47285400-47286600	Weak transcription	HSMMtube	muscle
10	chr12:47285400-47297400	Weak transcription	NHDF-Ad	bronchial
11	chr12:47285600-47286200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:47286000-47286200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:47286000-47286400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:47286000-47286400	Enhancers	Psoas Muscle	Psoas
15	chr12:47286000-47286400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr12:47286000-47286600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:47286000-47286600	Enhancers	Fetal Muscle Trunk	muscle
18	chr12:47286000-47287000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:47286000-47287400	Enhancers	Fetal Muscle Leg	muscle
20	chr12:47286000-47287600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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