Variant report

Variant	rs1231727
Chromosome Location	chr1:192817542-192817543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192810321..192812755-chr1:192815600..192818106,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1070909	0.97[EUR][1000 genomes]
rs1152746	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.99[EUR][1000 genomes]
rs1231726	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1231728	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1231729	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231730	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1231731	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1231732	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1231733	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1231734	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1231735	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231736	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1231737	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231738	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1231739	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231740	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231741	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231742	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231744	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231746	0.82[EUR][1000 genomes]
rs1231747	0.82[EUR][1000 genomes]
rs1231749	0.82[EUR][1000 genomes]
rs1231750	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1231751	0.82[EUR][1000 genomes]
rs1231754	0.81[EUR][1000 genomes]
rs1231757	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1231758	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1231759	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1231760	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1231762	0.83[EUR][1000 genomes]
rs1231763	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1231764	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1231765	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1231766	0.83[EUR][1000 genomes]
rs1231767	0.99[EUR][1000 genomes]
rs1234722	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1234723	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1237767	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733094	0.80[EUR][1000 genomes]
rs12756049	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12757265	0.88[EUR][1000 genomes]
rs12758285	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12758449	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1535034	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1620819	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1623376	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1737981	0.84[EUR][1000 genomes]
rs17524307	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17524545	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17590238	0.80[EUR][1000 genomes]
rs1890973	0.80[EUR][1000 genomes]
rs2473740	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2473741	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473742	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473744	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2473745	0.83[EUR][1000 genomes]
rs2487284	0.83[EUR][1000 genomes]
rs2487288	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2746068	0.82[EUR][1000 genomes]
rs2797395	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34424396	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34562719	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34838432	0.80[EUR][1000 genomes]
rs35040499	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35471066	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35845034	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35879519	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4098556	0.94[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4451535	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4658075	0.80[EUR][1000 genomes]
rs60382150	0.80[EUR][1000 genomes]
rs60756700	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6686024	0.80[EUR][1000 genomes]
rs6692203	0.80[EUR][1000 genomes]
rs710142	0.99[EUR][1000 genomes]
rs710144	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs710145	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs710146	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs842922	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs842923	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs842924	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844529	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859888	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859890	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863604	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs949982	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192816000-192818000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:192816400-192817600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:192816400-192819000	Weak transcription	Stomach Mucosa	stomach
4	chr1:192817000-192817600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:192817000-192819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:192817200-192817600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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