Variant report

Variant	rs568227
Chromosome Location	chr13:54759250-54759251
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:54758846..54760838-chr13:54765685..54768244,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2576139	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2576140	0.95[EUR][1000 genomes]
rs2782516	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2818221	0.93[EUR][1000 genomes]
rs490751	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs493274	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs496180	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs505155	0.95[EUR][1000 genomes]
rs524486	0.90[EUR][1000 genomes]
rs525758	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556714	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs572761	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs584860	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs586049	0.95[EUR][1000 genomes]
rs593897	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs596327	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs625472	0.93[EUR][1000 genomes]
rs631641	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635395	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651356	1.00[EUR][1000 genomes]
rs662226	0.95[EUR][1000 genomes]
rs679177	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs795636	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs795659	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536638	0.83[EUR][1000 genomes]
rs9536647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54757000-54760600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr13:54757200-54759600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr13:54757200-54760600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:54757400-54761000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:54757400-54761200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:54757600-54761200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:54757800-54760400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:54758000-54760200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr13:54758000-54760600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:54758200-54759400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:54758200-54759800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:54759000-54759800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:54759200-54760200	Enhancers	Cortex derived primary cultured neurospheres	brain

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