Variant report

Variant	rs6703750
Chromosome Location	chr1:185744989-185744990
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185735098..185737395-chr1:185742780..185745714,2	K562	blood:
2	chr1:185744979..185747367-chr1:185754929..185757056,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10127552	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10489716	1.00[EUR][1000 genomes]
rs12097100	1.00[EUR][1000 genomes]
rs12239000	1.00[YRI][hapmap];0.91[AFR][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	1.00[EUR][1000 genomes]
rs28507443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28510615	1.00[EUR][1000 genomes]
rs28571005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41317459	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55731570	1.00[EUR][1000 genomes]
rs55887884	1.00[EUR][1000 genomes]
rs56100961	1.00[EUR][1000 genomes]
rs56331179	1.00[EUR][1000 genomes]
rs56347630	1.00[EUR][1000 genomes]
rs56881574	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]
rs57642813	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57646071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57646829	1.00[EUR][1000 genomes]
rs57647869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57782754	1.00[EUR][1000 genomes]
rs58433773	1.00[EUR][1000 genomes]
rs58610741	1.00[EUR][1000 genomes]
rs59175860	1.00[EUR][1000 genomes]
rs59660733	1.00[EUR][1000 genomes]
rs59967839	1.00[EUR][1000 genomes]
rs60308365	1.00[EUR][1000 genomes]
rs60458315	1.00[EUR][1000 genomes]
rs60735946	1.00[EUR][1000 genomes]
rs61492840	1.00[AFR][1000 genomes];1.00[AMR][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]
rs6675790	0.91[AFR][1000 genomes]
rs6676349	1.00[EUR][1000 genomes]
rs6676522	1.00[EUR][1000 genomes]
rs6677183	1.00[EUR][1000 genomes]
rs6686746	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688298	1.00[EUR][1000 genomes]
rs6689228	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs6689317	0.91[AFR][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]
rs6701269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701921	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs73054405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054410	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054419	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054432	1.00[EUR][1000 genomes]
rs73054444	0.80[AFR][1000 genomes]
rs73054448	1.00[EUR][1000 genomes]
rs73054452	0.91[AFR][1000 genomes]
rs73054473	0.91[AFR][1000 genomes]
rs73058244	0.91[AFR][1000 genomes]
rs73058248	0.91[AFR][1000 genomes]
rs73058365	0.89[AFR][1000 genomes]
rs73058371	0.82[AFR][1000 genomes]
rs73058381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73058387	1.00[AMR][1000 genomes]
rs73058389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73058395	1.00[AMR][1000 genomes]
rs73060472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73060487	1.00[EUR][1000 genomes]
rs73060496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062507	1.00[AFR][1000 genomes];1.00[AMR][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	1.00[EUR][1000 genomes]
rs73070547	1.00[EUR][1000 genomes]
rs73070548	1.00[EUR][1000 genomes]
rs73070566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070567	1.00[EUR][1000 genomes]
rs73070580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070598	1.00[EUR][1000 genomes]
rs73072012	1.00[EUR][1000 genomes]
rs73072023	1.00[EUR][1000 genomes]
rs73072044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072049	1.00[EUR][1000 genomes]
rs73072053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072063	1.00[EUR][1000 genomes]
rs73072067	1.00[EUR][1000 genomes]
rs73072072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072073	0.94[AFR][1000 genomes];1.00[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	1.00[EUR][1000 genomes]
rs74135346	1.00[EUR][1000 genomes]
rs74135350	1.00[EUR][1000 genomes]
rs74135351	1.00[EUR][1000 genomes]
rs74135359	1.00[EUR][1000 genomes]
rs74135362	1.00[EUR][1000 genomes]
rs74135365	1.00[EUR][1000 genomes]
rs7514923	1.00[AMR][1000 genomes]
rs7517811	1.00[EUR][1000 genomes]
rs7540727	1.00[EUR][1000 genomes]
rs7540773	1.00[EUR][1000 genomes]
rs7544162	1.00[EUR][1000 genomes]
rs7544394	1.00[EUR][1000 genomes]
rs7544808	1.00[EUR][1000 genomes]
rs959689	1.00[EUR][1000 genomes]
rs9727715	1.00[AFR][1000 genomes];1.00[AMR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185730200-185745000	Weak transcription	Fetal Kidney	kidney
2	chr1:185736000-185747000	Weak transcription	Aorta	Aorta
3	chr1:185737800-185758800	Weak transcription	Fetal Lung	lung
4	chr1:185743200-185746000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:185743600-185745000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:185743600-185745200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:185743600-185747000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:185743800-185745400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:185744000-185755000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:185744600-185745000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:185744600-185745200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:185744800-185745000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:185744800-185745200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:185744800-185745600	Enhancers	H9 Cell Line	embryonic stem cell

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