Variant report

Variant	rs1231750
Chromosome Location	chr1:192856679-192856680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1070909	0.89[EUR][1000 genomes]
rs1152746	0.91[EUR][1000 genomes]
rs1231726	0.82[EUR][1000 genomes]
rs1231727	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1231728	0.82[EUR][1000 genomes]
rs1231729	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1231730	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231731	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231732	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231733	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231734	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231735	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1231736	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231737	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1231738	0.82[EUR][1000 genomes]
rs1231739	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1231740	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1231741	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1231742	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1231744	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1231746	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231747	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231749	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231751	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1231754	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1231757	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1231758	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1231759	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1231760	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1231762	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231763	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1231764	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1231765	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1231766	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231767	0.91[EUR][1000 genomes]
rs1234722	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1234723	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1237767	0.91[EUR][1000 genomes]
rs12733094	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12756049	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756435	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12756953	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12757265	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12758285	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12758449	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535034	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1620819	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623376	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834948	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1737981	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17524307	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17524545	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17590238	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890973	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2473741	0.91[EUR][1000 genomes]
rs2473742	0.91[EUR][1000 genomes]
rs2473744	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2473745	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2487284	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2487286	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2487288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2746068	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2797395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34120198	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34424396	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34562719	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34732347	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34838432	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34867585	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35040499	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35471066	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35845034	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35879519	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35997646	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36005848	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4098556	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332340	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4451535	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658075	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58739396	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60382150	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60756700	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686024	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692203	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710142	0.91[EUR][1000 genomes]
rs710144	0.82[EUR][1000 genomes]
rs710145	0.80[EUR][1000 genomes]
rs710146	0.81[EUR][1000 genomes]
rs842922	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs842923	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs842924	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs844529	0.91[EUR][1000 genomes]
rs859888	0.91[EUR][1000 genomes]
rs859890	0.92[EUR][1000 genomes]
rs863604	0.82[EUR][1000 genomes]
rs949982	1.00[AMR][1000 genomes];0.97[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:14 , 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	chr1:192856400-192856800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:192856400-192856800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:192856400-192857000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:192856400-192857200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:192856400-192857400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:192856400-192857600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:192856600-192856800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:192856600-192857200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:192856600-192857600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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