Variant report

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11740415	0.81[TSI][hapmap]
rs11955075	0.81[TSI][hapmap]
rs34521671	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34580109	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34766974	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35525634	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4129472	1.00[MEX][hapmap]
rs4365846	0.81[TSI][hapmap]
rs4395642	0.81[TSI][hapmap]
rs56144821	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66531739	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68070657	1.00[ASN][1000 genomes]
rs6868132	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736209	0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42555400-42566000	Enhancers	Liver	Liver
2	chr5:42556200-42565600	Weak transcription	Right Ventricle	heart
3	chr5:42557600-42565000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:42561800-42565000	Weak transcription	Ovary	ovary
5	chr5:42561800-42565600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:42562200-42565000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:42562400-42566000	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:42562600-42565000	Weak transcription	Left Ventricle	heart
9	chr5:42562600-42565000	Weak transcription	Psoas Muscle	Psoas
10	chr5:42562600-42565200	Weak transcription	Fetal Stomach	stomach
11	chr5:42562800-42564800	Weak transcription	Fetal Heart	heart
12	chr5:42562800-42565800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:42563200-42565000	Weak transcription	Fetal Lung	lung
14	chr5:42563400-42565400	Weak transcription	Adipose Nuclei	Adipose
15	chr5:42563400-42565600	Weak transcription	Right Atrium	heart
16	chr5:42564000-42565000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:42564400-42565000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:42564400-42565000	Enhancers	HMEC	breast
19	chr5:42564400-42565000	Enhancers	NHEK	skin
20	chr5:42564600-42565800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:42564600-42565800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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