Variant report

Variant	rs7530747
Chromosome Location	chr1:192857032-192857033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10489514	1.00[ASN][1000 genomes]
rs10494676	0.83[EUR][1000 genomes]
rs10494677	0.83[EUR][1000 genomes]
rs10921281	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921284	0.83[EUR][1000 genomes]
rs10921288	0.83[EUR][1000 genomes]
rs12076933	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087043	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091901	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12096309	0.97[AFR][1000 genomes]
rs1231819	1.00[ASN][1000 genomes]
rs1625786	1.00[ASN][1000 genomes]
rs16834887	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834924	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834941	0.94[EUR][1000 genomes]
rs16834945	0.82[EUR][1000 genomes]
rs1770915	1.00[ASN][1000 genomes]
rs1770918	1.00[ASN][1000 genomes]
rs1775687	1.00[ASN][1000 genomes]
rs1775688	1.00[ASN][1000 genomes]
rs1775689	1.00[ASN][1000 genomes]
rs1775690	1.00[ASN][1000 genomes]
rs1775691	1.00[ASN][1000 genomes]
rs1775693	1.00[ASN][1000 genomes]
rs2153083	1.00[ASN][1000 genomes]
rs2370026	0.83[EUR][1000 genomes]
rs58637690	0.83[EUR][1000 genomes]
rs60641679	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61394494	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6428139	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660343	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661981	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700848	0.94[EUR][1000 genomes]
rs715422	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73064200	0.86[AFR][1000 genomes]
rs7514204	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523033	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542329	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 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	chr1:192843800-192861800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:192855200-192857600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:192856200-192857600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr1:192856200-192857800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:192856200-192858400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr1:192856400-192857200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:192856400-192857400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:192856400-192857600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:192856600-192857200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:192856600-192857600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:192857000-192857400	Enhancers	HUES6 Cell Line	embryonic stem cell

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