Variant report

Variant	rs62378464
Chromosome Location	chr5:96749269-96749270
allele	G/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:20)

rs_ID	r²[population]
rs1039041	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1074687	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11135513	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11740893	0.84[ASN][1000 genomes]
rs17087485	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17087488	0.88[ASN][1000 genomes]
rs17087533	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291799	0.94[ASN][1000 genomes]
rs291802	0.86[ASN][1000 genomes]
rs291804	0.94[ASN][1000 genomes]
rs291805	0.91[ASN][1000 genomes]
rs57380144	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62377271	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62377301	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62377303	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62377358	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62378461	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73778322	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73780754	0.87[EUR][1000 genomes]
rs7734922	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer 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	24 gene(s)	inside rSNPs	diseases
3	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv534326	chr5:96531217-97283481	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv882394	chr5:96538585-97108559	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1032548	chr5:96565121-97046804	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv537813	chr5:96565121-97046804	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv830415	chr5:96597763-96764157	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1025654	chr5:96613448-96817528	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1025345	chr5:96747650-96777286	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96738200-96750200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:96745600-96753600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:96747000-96750000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:96747400-96749800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:96748600-96749400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:96748600-96750600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:96749000-96750200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:96749000-96750200	Weak transcription	GM12878-XiMat	blood

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