Variant report

Variant	rs7996220
Chromosome Location	chr13:66915901-66915902
allele	A/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:31)

rs_ID	r²[population]
rs1158646	0.88[CEU][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs1158647	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs12864905	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1334398	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1413573	0.89[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs1444387	0.89[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs1831972	0.89[CEU][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs2324888	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2875472	0.89[CEU][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4635220	0.85[EUR][1000 genomes]
rs7319883	0.89[CEU][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs7983403	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap]
rs7988498	0.85[EUR][1000 genomes]
rs7995375	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs930573	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9317585	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9529052	0.86[EUR][1000 genomes]
rs9529055	0.88[CEU][hapmap]
rs9540717	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9540718	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9540720	0.89[CEU][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9540724	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9540728	0.89[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9540729	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs9540731	0.89[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs9540732	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs9540734	0.89[CEU][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs9564313	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9571576	0.83[TSI][hapmap]
rs9571577	0.87[EUR][1000 genomes]
rs9592461	0.89[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047991	chr13:65982529-66931617	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv530416	chr13:66198235-67126195	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1053763	chr13:66210166-67184972	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv541811	chr13:66210166-67184972	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv932195	chr13:66215786-67215733	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv530723	chr13:66219650-67200316	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1052017	chr13:66232288-67213033	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv534503	chr13:66287963-67126195	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv915828	chr13:66544825-67212201	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv1041133	chr13:66723731-67530595	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv900388	chr13:66798923-66919700	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv900389	chr13:66867794-66961006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66905000-66918800	Weak transcription	Brain Hippocampus Middle	brain
2	chr13:66914600-66916000	Enhancers	Brain Substantia Nigra	brain
3	chr13:66915400-66916000	Enhancers	Brain Angular Gyrus	brain
4	chr13:66915400-66916000	Enhancers	Left Ventricle	heart
5	chr13:66915400-66916200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr13:66915400-66916200	Enhancers	Colon Smooth Muscle	Colon
7	chr13:66915600-66916000	Enhancers	Fetal Heart	heart
8	chr13:66915600-66916200	Enhancers	HSMM	muscle
9	chr13:66915600-66919000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:66915800-66916200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:66915800-66916200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:66915800-66916200	Enhancers	Fetal Kidney	kidney
13	chr13:66915800-66916600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:66915800-66917600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:66915800-66918600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:66915800-66918800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr13:66915800-66919000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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