Variant report

Variant	rs11589007
Chromosome Location	chr1:228182120-228182121
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228174620..228176417-chr1:228182023..228184650,2	MCF-7	breast:
2	chr1:228180647..228182707-chr1:228268126..228270057,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1034792	0.83[CEU][hapmap]
rs10495278	0.86[CHB][hapmap]
rs10916262	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11577983	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578623	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579417	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11579725	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11580654	0.84[EUR][1000 genomes]
rs11580665	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs11581915	0.82[EUR][1000 genomes]
rs11582265	0.80[ASN][1000 genomes]
rs11582704	0.80[ASN][1000 genomes]
rs11584128	0.82[EUR][1000 genomes]
rs11587069	0.82[EUR][1000 genomes]
rs11589040	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589513	0.83[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11590118	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048010	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13374948	0.90[CEU][hapmap]
rs1342351	0.89[EUR][1000 genomes]
rs17621519	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909647	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107905	0.84[EUR][1000 genomes]
rs35564923	0.82[EUR][1000 genomes]
rs35826486	0.86[EUR][1000 genomes]
rs3768329	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs3768330	0.86[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs3949294	0.91[CEU][hapmap]
rs4363416	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4546914	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653533	0.82[CEU][hapmap]
rs4653894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653895	0.94[EUR][1000 genomes]
rs56888086	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56910872	0.82[EUR][1000 genomes]
rs57146523	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57292064	0.82[EUR][1000 genomes]
rs57536604	0.82[EUR][1000 genomes]
rs57556486	0.89[EUR][1000 genomes]
rs57657087	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58398048	0.82[EUR][1000 genomes]
rs60213528	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61825130	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6665129	1.00[CEU][hapmap]
rs6672422	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6672559	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6672601	0.98[EUR][1000 genomes]
rs72472998	0.80[EUR][1000 genomes]
rs72756204	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73110722	0.89[EUR][1000 genomes]
rs7530812	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7539664	0.83[CEU][hapmap]
rs882451	0.86[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv947387	chr1:228140028-228206630	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv945348	chr1:228173369-228186556	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228180400-228182600	Weak transcription	Placenta	Placenta
2	chr1:228182000-228183000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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