Variant report

Variant	rs6590985
Chromosome Location	chr11:102598655-102598656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr11:102598604-102599162	SK-N-SH	brain:	n/a	chr11:102598850-102598859
2	FOS	chr11:102598644-102599045	MCF10A-Er-Src	breast:	n/a	chr11:102598850-102598859 chr11:102598849-102598860
3	FOSL2	chr11:102598586-102599101	SK-N-SH	brain:	n/a	chr11:102598850-102598859
4	JUN	chr11:102598467-102599046	HUVEC	blood vessel:	n/a	chr11:102598850-102598859
5	JUND	chr11:102598514-102599174	SK-N-SH	brain:	n/a	chr11:102598850-102598859
6	FOS	chr11:102598555-102599084	HUVEC	blood vessel:	n/a	chr11:102598850-102598859 chr11:102598849-102598860
7	SPI1	chr11:102598642-102598918	HL-60	blood:	n/a	n/a
8	SPI1	chr11:102598466-102598992	HL-60	blood:	n/a	n/a
9	CEBPB	chr11:102598504-102598971	IMR90	lung:	n/a	n/a
10	TCF12	chr11:102598547-102599135	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr11:102598529-102599194	SK-N-SH	brain:	n/a	chr11:102598849-102598858
12	PBX3	chr11:102598573-102599220	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr11:102598604-102599051	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MMP8	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10750653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11225395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17099462	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1939012	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1939013	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940474	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1940475	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2186602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758859	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3765620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6590983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6590986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs948218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv832252	chr11:102445479-102627879	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1037454	chr11:102487521-102601233	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541156	chr11:102487521-102601233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102593600-102598800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:102596400-102601000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:102597200-102599400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:102597600-102599600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:102598200-102598800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:102598200-102599000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:102598200-102599600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:102598200-102599600	Enhancers	NHEK	skin
9	chr11:102598200-102600000	Enhancers	HMEC	breast
10	chr11:102598200-102600000	Enhancers	NHLF	lung
11	chr11:102598200-102601400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:102598200-102601600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:102598200-102602000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:102598200-102602000	Enhancers	HUVEC	blood vessel
15	chr11:102598400-102598800	Enhancers	Fetal Stomach	stomach
16	chr11:102598400-102599400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr11:102598400-102599400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:102598400-102600600	Enhancers	NHDF-Ad	bronchial
19	chr11:102598600-102599000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:102598600-102600000	Enhancers	Monocytes-CD14+_RO01746	blood

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