Variant report

Variant	rs6570753
Chromosome Location	chr6:146593915-146593916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1016600	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555084	0.99[ASN][1000 genomes]
rs17075850	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2223773	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2300617	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs362831	0.96[ASN][1000 genomes]
rs362834	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs362835	0.92[ASN][1000 genomes]
rs362946	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs362962	0.96[ASN][1000 genomes]
rs362985	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4479958	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4538735	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570747	0.85[ASN][1000 genomes]
rs6570752	0.85[EUR][1000 genomes]
rs6570754	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570755	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6909071	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921530	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929180	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942277	0.99[ASN][1000 genomes]
rs7767227	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs941901	0.96[ASN][1000 genomes]
rs9497519	0.83[AFR][1000 genomes];0.95[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	nsv604839	chr6:146305810-146828922	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830836	chr6:146423405-146598983	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1033913	chr6:146572989-147092365	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv538466	chr6:146572989-147092365	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146591000-146594200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:146591000-146594400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:146591800-146596200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:146592400-146595000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:146592800-146594200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:146592800-146594200	Weak transcription	Brain Germinal Matrix	brain
7	chr6:146593200-146596000	Weak transcription	Fetal Heart	heart
8	chr6:146593600-146594000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:146593600-146596600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:146593800-146594000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:146593800-146595600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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