Variant report

Variant	rs3797514
Chromosome Location	chr5:106735087-106735088
allele	A/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:26)

rs_ID	r²[population]
rs10085055	0.85[EUR][1000 genomes]
rs11242636	0.81[AMR][1000 genomes]
rs13182976	0.82[EUR][1000 genomes]
rs28683545	0.85[EUR][1000 genomes]
rs34366978	0.82[EUR][1000 genomes]
rs35021422	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3756544	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3776792	0.82[EUR][1000 genomes]
rs3797510	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3797513	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3797516	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3797517	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3797521	0.82[EUR][1000 genomes]
rs3822565	0.85[EUR][1000 genomes]
rs3873122	0.81[AMR][1000 genomes]
rs3873123	0.81[AMR][1000 genomes]
rs58696640	0.82[EUR][1000 genomes]
rs59863014	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66505151	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6868410	0.85[EUR][1000 genomes]
rs72785812	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785815	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72785816	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72785818	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785829	0.85[EUR][1000 genomes]
rs7703776	0.85[EUR][1000 genomes]

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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106720400-106740800	Weak transcription	Aorta	Aorta
2	chr5:106725800-106740400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:106728400-106738200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:106730400-106737200	Weak transcription	Fetal Lung	lung
5	chr5:106731600-106738200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:106732200-106737800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:106732200-106738200	Weak transcription	HSMM	muscle
8	chr5:106732200-106739400	Weak transcription	GM12878-XiMat	blood
9	chr5:106732200-106753200	Weak transcription	Fetal Kidney	kidney
10	chr5:106732400-106737400	Weak transcription	Fetal Heart	heart
11	chr5:106732400-106737600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:106732400-106737800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:106732600-106736000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:106732600-106736600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:106732600-106736800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:106732800-106737200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:106733000-106738200	Weak transcription	Ovary	ovary
18	chr5:106733000-106738400	Weak transcription	Left Ventricle	heart
19	chr5:106733600-106744800	Weak transcription	Right Ventricle	heart
20	chr5:106734000-106736400	Weak transcription	A549	lung
21	chr5:106734200-106735200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:106734200-106735200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:106734200-106735400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:106734200-106736200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:106734200-106736400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:106734200-106737200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:106734200-106737800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:106734400-106735200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:106734400-106736800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:106734400-106738200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:106735000-106735800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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