Variant report

Variant	rs7552393
Chromosome Location	chr1:84254551-84254552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10159391	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11163825	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1546921	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17129520	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2389652	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6576943	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6576946	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6576947	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6699405	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs761405	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs997248	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Select biomarker traits	17903293	GWAS catalog

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84252200-84254600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:84252200-84254800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:84252200-84255000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:84252400-84254600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:84252600-84255000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:84253200-84254600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:84253600-84254600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:84253800-84255400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:84254000-84256800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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