Variant report

Variant	rs9472530
Chromosome Location	chr6:45601540-45601541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45600857..45602978-chr6:45603525..45606024,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10080253	0.81[ASN][1000 genomes]
rs12528502	0.89[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs12661055	0.85[ASN][1000 genomes]
rs12661124	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12663210	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12665637	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1491142	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16873543	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16873550	0.85[YRI][hapmap]
rs16873554	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2020084	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56083876	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58129892	0.85[ASN][1000 genomes]
rs59074904	0.87[ASN][1000 genomes]
rs60540355	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60884282	0.81[ASN][1000 genomes]
rs6458449	0.85[ASN][1000 genomes]
rs6458450	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6458454	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6458455	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899443	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6902401	0.85[ASN][1000 genomes]
rs6916895	0.85[ASN][1000 genomes]
rs6917651	0.85[ASN][1000 genomes]
rs6934210	0.81[ASN][1000 genomes]
rs6938247	0.81[YRI][hapmap]
rs6938489	0.89[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs6940187	0.85[ASN][1000 genomes]
rs6941971	0.82[ASN][1000 genomes]
rs73738527	0.82[ASN][1000 genomes]
rs73738528	0.85[ASN][1000 genomes]
rs7744486	0.82[ASN][1000 genomes]
rs7752200	0.81[ASN][1000 genomes]
rs7758915	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7759415	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7763886	0.81[ASN][1000 genomes]
rs7764338	0.89[YRI][hapmap]
rs9296462	0.89[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9296463	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9463108	0.89[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9472524	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9472525	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9472527	0.82[ASN][1000 genomes]
rs9472531	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9472532	0.81[ASN][1000 genomes]
rs9472534	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS 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
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45594200-45604400	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:45595000-45607600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:45598600-45602000	Weak transcription	Pancreas	Pancrea
4	chr6:45598600-45605200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:45598800-45604200	Weak transcription	NHLF	lung
6	chr6:45599200-45607400	Weak transcription	NHDF-Ad	bronchial
7	chr6:45599400-45607400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:45599400-45607600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:45599600-45607600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:45600600-45601800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:45601000-45601600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:45601000-45601600	Flanking Active TSS	Osteobl	bone
13	chr6:45601200-45601600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr6:45601200-45601600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:45601200-45601600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr6:45601200-45601600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:45601200-45601600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:45601200-45601600	Enhancers	Psoas Muscle	Psoas
19	chr6:45601200-45601800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:45601200-45602000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr6:45601200-45603600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:45601400-45602600	Enhancers	Fetal Brain Male	brain

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