Variant report

Variant	rs11748066
Chromosome Location	chr5:15615491-15615492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10520820	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11956557	0.86[CEU][hapmap]
rs13165753	0.91[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13165774	0.86[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13176043	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13177182	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13177283	0.95[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13184983	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13190262	0.86[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1429030	0.95[CEU][hapmap]
rs17523444	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17523486	0.86[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17523562	0.95[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2059900	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35283404	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35336928	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35839071	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4129028	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4440359	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4509017	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4587075	0.91[ASW][hapmap];0.95[CEU][hapmap];0.89[TSI][hapmap]
rs58149311	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60776566	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6554891	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6860057	0.91[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6864426	0.94[CEU][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6865410	0.86[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6871889	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6872217	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6878966	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6896719	0.91[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6897885	0.86[MEX][hapmap]
rs71595943	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7706195	0.95[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7720476	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830214	chr5:15589809-15791032	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3507774	chr5:15593461-15822407	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3507776	chr5:15593461-15822407	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv4732	chr5:15598325-15636520	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15585000-15630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:15586000-15619800	Weak transcription	NHLF	lung
3	chr5:15593400-15633400	Weak transcription	Fetal Lung	lung
4	chr5:15600600-15645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:15602800-15620600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:15605200-15620000	Weak transcription	HSMM	muscle
7	chr5:15605200-15620800	Weak transcription	HSMMtube	muscle
8	chr5:15605400-15620600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:15605400-15621000	Weak transcription	Aorta	Aorta
10	chr5:15607400-15621400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:15608000-15621000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:15609800-15620600	Weak transcription	Lung	lung
13	chr5:15610000-15627400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:15610400-15635200	Weak transcription	Fetal Stomach	stomach
15	chr5:15610800-15619800	Weak transcription	HUVEC	blood vessel
16	chr5:15611200-15621200	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:15612200-15616400	Enhancers	Fetal Heart	heart
18	chr5:15613000-15616000	Weak transcription	NHDF-Ad	bronchial
19	chr5:15613400-15619800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:15613600-15616000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:15613600-15616200	Enhancers	Fetal Muscle Leg	muscle
22	chr5:15613600-15619200	Weak transcription	Left Ventricle	heart
23	chr5:15613600-15635200	Weak transcription	Right Ventricle	heart
24	chr5:15614200-15616000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:15615000-15621200	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:15615400-15615600	Enhancers	Ovary	ovary

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