Variant report

Variant	rs56347630
Chromosome Location	chr1:185780742-185780743
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185778020..185780424-chr1:185780739..185782758,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10489716	1.00[EUR][1000 genomes]
rs12079734	1.00[EUR][1000 genomes]
rs12097100	1.00[EUR][1000 genomes]
rs1407428	1.00[EUR][1000 genomes]
rs16824455	1.00[EUR][1000 genomes]
rs16824458	1.00[EUR][1000 genomes]
rs16824488	1.00[EUR][1000 genomes]
rs16824497	1.00[EUR][1000 genomes]
rs1830622	1.00[EUR][1000 genomes]
rs1830623	1.00[EUR][1000 genomes]
rs1853247	1.00[EUR][1000 genomes]
rs2170858	1.00[EUR][1000 genomes]
rs28477118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28510615	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55731570	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55887884	1.00[EUR][1000 genomes]
rs56100961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56331179	1.00[EUR][1000 genomes]
rs56881574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57036166	1.00[EUR][1000 genomes]
rs57107751	1.00[EUR][1000 genomes]
rs57162167	1.00[EUR][1000 genomes]
rs57215320	1.00[EUR][1000 genomes]
rs57246058	1.00[EUR][1000 genomes]
rs57257586	1.00[EUR][1000 genomes]
rs57646829	1.00[EUR][1000 genomes]
rs57782754	1.00[EUR][1000 genomes]
rs58375153	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58433773	1.00[EUR][1000 genomes]
rs58610741	1.00[EUR][1000 genomes]
rs59024653	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59175860	1.00[EUR][1000 genomes]
rs59660733	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59967839	1.00[EUR][1000 genomes]
rs60307030	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60308365	1.00[EUR][1000 genomes]
rs60458315	1.00[EUR][1000 genomes]
rs60735946	1.00[EUR][1000 genomes]
rs61679640	1.00[EUR][1000 genomes]
rs61689983	1.00[EUR][1000 genomes]
rs6425004	1.00[EUR][1000 genomes]
rs6425005	1.00[EUR][1000 genomes]
rs6671094	1.00[EUR][1000 genomes]
rs6675691	1.00[EUR][1000 genomes]
rs6676349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676522	1.00[EUR][1000 genomes]
rs6677183	1.00[EUR][1000 genomes]
rs6688298	1.00[EUR][1000 genomes]
rs6689228	1.00[EUR][1000 genomes]
rs6689359	1.00[EUR][1000 genomes]
rs6690475	1.00[EUR][1000 genomes]
rs6690559	1.00[EUR][1000 genomes]
rs6690714	1.00[EUR][1000 genomes]
rs6700856	1.00[EUR][1000 genomes]
rs6703750	1.00[EUR][1000 genomes]
rs73054432	1.00[EUR][1000 genomes]
rs73054448	1.00[EUR][1000 genomes]
rs73060487	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062512	1.00[EUR][1000 genomes]
rs73062516	1.00[EUR][1000 genomes]
rs73070519	1.00[EUR][1000 genomes]
rs73070522	1.00[EUR][1000 genomes]
rs73070527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070547	1.00[EUR][1000 genomes]
rs73070548	1.00[EUR][1000 genomes]
rs73070567	1.00[EUR][1000 genomes]
rs73070598	1.00[EUR][1000 genomes]
rs73072012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072075	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74134207	1.00[EUR][1000 genomes]
rs74134210	1.00[EUR][1000 genomes]
rs74134216	1.00[EUR][1000 genomes]
rs74134265	1.00[EUR][1000 genomes]
rs74134306	1.00[EUR][1000 genomes]
rs74135337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135350	1.00[EUR][1000 genomes]
rs74135351	1.00[EUR][1000 genomes]
rs74135359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517811	1.00[EUR][1000 genomes]
rs7520805	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7540727	1.00[EUR][1000 genomes]
rs7540773	1.00[EUR][1000 genomes]
rs7544162	1.00[EUR][1000 genomes]
rs7544394	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544808	1.00[EUR][1000 genomes]
rs7554996	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs959689	1.00[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr1:185779800-185781000	Enhancers	NHDF-Ad	bronchial
2	chr1:185779800-185781200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:185780000-185781000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:185780000-185781000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:185780000-185781400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:185780400-185785000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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