Variant report

Variant	rs7988063
Chromosome Location	chr13:94408076-94408077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1320551	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1890437	0.83[EUR][1000 genomes]
rs1933780	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1933781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933784	0.86[EUR][1000 genomes]
rs4238307	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4272897	0.86[EUR][1000 genomes]
rs4322535	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4534700	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4556668	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4572255	0.86[EUR][1000 genomes]
rs4589418	0.86[EUR][1000 genomes]
rs4590994	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4622388	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4628823	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4771882	0.86[EUR][1000 genomes]
rs4773758	0.86[EUR][1000 genomes]
rs4773759	0.86[EUR][1000 genomes]
rs6492675	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6492676	0.86[EUR][1000 genomes]
rs7330971	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7331304	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7982874	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7984578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7988294	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7998877	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9284273	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9301903	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9301904	0.86[EUR][1000 genomes]
rs9524179	0.86[EUR][1000 genomes]
rs9524180	0.86[EUR][1000 genomes]
rs9524197	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1045230	chr13:94277683-94764671	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv933758	chr13:94299302-94421378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv916694	chr13:94360053-94423063	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	nsv832684	chr13:94379507-94550853	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94400000-94408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:94400000-94409000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:94400400-94411000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:94403200-94412400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:94403400-94411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:94403600-94409800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:94403600-94411000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:94405600-94408600	Weak transcription	Fetal Heart	heart
9	chr13:94407400-94408600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:94407400-94410000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr13:94407800-94408200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:94407800-94410000	Weak transcription	HepG2	liver

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