Variant report

Variant	rs12209027
Chromosome Location	chr6:144947597-144947598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10499232	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs11155364	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11155365	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11155370	0.91[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.80[AMR][1000 genomes]
rs12212750	1.00[YRI][hapmap]
rs12216212	1.00[YRI][hapmap]
rs12662483	0.95[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs12662875	0.94[ASN][1000 genomes]
rs17073972	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs17073995	1.00[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs17074004	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1980379	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2056744	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs2056745	1.00[CEU][hapmap];0.96[GIH][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3950347	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4895646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9373419	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs9373420	0.80[AMR][1000 genomes]
rs9376835	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs9376837	0.91[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap]
rs9376838	0.80[AMR][1000 genomes]
rs9386076	0.91[CEU][hapmap];0.93[GIH][hapmap]
rs9390184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9390187	0.91[CEU][hapmap];0.91[CHB][hapmap];0.80[AMR][1000 genomes]
rs9390188	0.80[AMR][1000 genomes]
rs9399483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9399486	0.91[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.80[AMR][1000 genomes]
rs9399489	0.91[CEU][hapmap];0.93[GIH][hapmap]
rs9403572	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs9403578	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144914800-144960000	Weak transcription	Lung	lung
2	chr6:144929600-144955200	Weak transcription	HepG2	liver
3	chr6:144930000-144950200	Weak transcription	Primary T cells from cord blood	blood
4	chr6:144930400-144957600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:144930600-144973000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:144930800-144951800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:144930800-144957800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:144931000-144958800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:144939000-144949800	Weak transcription	Primary B cells from cord blood	blood
10	chr6:144939000-144959200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:144939400-144949400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:144941400-144951800	Weak transcription	Fetal Heart	heart
13	chr6:144943000-144947600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:144943600-144953800	Weak transcription	Gastric	stomach
15	chr6:144944200-144951200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr6:144946000-144949800	Weak transcription	Pancreas	Pancrea
17	chr6:144946000-144952200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:144946000-144961000	Weak transcription	Left Ventricle	heart
19	chr6:144946000-144965800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:144946800-144947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:144947000-144964800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:144947000-144969200	Weak transcription	Fetal Kidney	kidney
23	chr6:144947200-144947600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:144947400-144947800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:144947400-144948000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:144947400-144949000	Enhancers	HUVEC	blood vessel

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