Variant report

Variant	rs518647
Chromosome Location	chr13:54751872-54751873
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1537644	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2260462	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2576113	0.89[EUR][1000 genomes]
rs2576118	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2576132	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2576143	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2576144	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2782515	0.89[EUR][1000 genomes]
rs2782517	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2782518	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2784552	0.83[YRI][hapmap]
rs2784558	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs484366	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs515604	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs520026	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs538663	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs564930	0.84[ASN][1000 genomes]
rs574751	0.89[EUR][1000 genomes]
rs632059	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636911	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs664745	0.89[EUR][1000 genomes]
rs681748	0.89[EUR][1000 genomes]
rs688466	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs795635	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs795642	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs795643	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs795652	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs795653	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs795655	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs795656	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs797060	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7993452	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs812128	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3375545	chr13:54517432-54908108	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv561701	chr13:54711276-54826104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3335513	chr13:54749251-54752499	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54749800-54752200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:54749800-54752400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:54750000-54753200	Weak transcription	Fetal Heart	heart
4	chr13:54750000-54754000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:54750000-54757200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:54750400-54754200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:54750400-54758000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:54751000-54757600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:54751600-54752400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:54751800-54752800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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