Variant report

Variant	rs72759313
Chromosome Location	chr5:53078181-53078182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr5:53078113-53078932	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000263710	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10471385	1.00[ASN][1000 genomes]
rs11738715	1.00[ASN][1000 genomes]
rs11747933	1.00[ASN][1000 genomes]
rs1388112	1.00[ASN][1000 genomes]
rs1504213	1.00[ASN][1000 genomes]
rs17250294	1.00[ASN][1000 genomes]
rs2035769	1.00[ASN][1000 genomes]
rs4604144	1.00[ASN][1000 genomes]
rs55846014	1.00[ASN][1000 genomes]
rs56245000	1.00[ASN][1000 genomes]
rs62372372	1.00[ASN][1000 genomes]
rs62372373	1.00[ASN][1000 genomes]
rs62372374	1.00[ASN][1000 genomes]
rs62372375	1.00[ASN][1000 genomes]
rs62372376	1.00[ASN][1000 genomes]
rs62372391	1.00[ASN][1000 genomes]
rs6898965	1.00[ASN][1000 genomes]
rs72759303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759309	1.00[ASN][1000 genomes]
rs72759312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759314	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759388	1.00[ASN][1000 genomes]
rs72759389	1.00[ASN][1000 genomes]
rs72759390	1.00[ASN][1000 genomes]
rs72759397	1.00[ASN][1000 genomes]
rs72759399	1.00[ASN][1000 genomes]
rs72761303	1.00[ASN][1000 genomes]
rs72761304	1.00[ASN][1000 genomes]
rs72761312	1.00[ASN][1000 genomes]
rs72761339	1.00[ASN][1000 genomes]
rs72763106	1.00[ASN][1000 genomes]
rs72763114	1.00[ASN][1000 genomes]
rs72763115	1.00[ASN][1000 genomes]
rs72763116	1.00[ASN][1000 genomes]
rs72763118	1.00[ASN][1000 genomes]
rs72763119	1.00[ASN][1000 genomes]
rs72763127	1.00[ASN][1000 genomes]
rs72763129	1.00[ASN][1000 genomes]
rs72763130	1.00[ASN][1000 genomes]
rs72763131	1.00[ASN][1000 genomes]
rs72763132	1.00[ASN][1000 genomes]
rs72763133	1.00[ASN][1000 genomes]
rs72763135	1.00[ASN][1000 genomes]
rs72763156	1.00[ASN][1000 genomes]
rs72763157	1.00[ASN][1000 genomes]
rs7737026	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv830298	chr5:52973912-53193398	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53075600-53086000	Weak transcription	Pancreas	Pancrea
2	chr5:53075800-53078400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:53075800-53079200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:53076000-53078200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:53076000-53078600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:53076200-53078200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:53076200-53079200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:53076400-53078200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:53076400-53078200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:53076400-53078400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:53077800-53080800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:53078000-53078600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:53078000-53079400	Enhancers	HMEC	breast
14	chr5:53078000-53079800	Enhancers	NHEK	skin

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