Variant report

Variant	rs7048384
Chromosome Location	chr9:21461790-21461791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10811546	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10811551	0.85[CHB][hapmap]
rs10811557	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs10964990	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs10965000	0.82[ASN][1000 genomes]
rs10965001	0.95[ASN][1000 genomes]
rs10965008	0.84[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs10965012	0.86[ASN][1000 genomes]
rs10965013	0.86[ASN][1000 genomes]
rs10965017	0.86[ASN][1000 genomes]
rs10965018	0.85[ASN][1000 genomes]
rs10965020	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs10965021	1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10965022	0.93[CHB][hapmap];0.84[ASN][1000 genomes]
rs10965023	0.93[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs10965032	0.94[ASN][1000 genomes]
rs10965033	0.94[ASN][1000 genomes]
rs10965037	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11532905	0.84[ASN][1000 genomes]
rs11999009	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs12003405	0.89[ASN][1000 genomes]
rs12236551	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12551723	0.94[ASN][1000 genomes]
rs12554691	0.94[ASN][1000 genomes]
rs1412396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1412397	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1537280	0.94[ASN][1000 genomes]
rs1537281	0.94[ASN][1000 genomes]
rs16938425	0.85[ASN][1000 genomes]
rs16938434	0.84[ASN][1000 genomes]
rs2039381	0.85[ASN][1000 genomes]
rs4978119	0.82[ASN][1000 genomes]
rs60743333	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7021202	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs7030231	1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7034161	0.84[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7038604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73652406	0.84[AFR][1000 genomes]
rs7856321	0.82[JPT][hapmap]
rs7862040	0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs9721887	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	esv2752289	chr9:21361957-21499624	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv466297	chr9:21391698-21507589	Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv613758	chr9:21391698-21507589	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892739	chr9:21407250-21470520	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1030064	chr9:21455760-21524674	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	111 gene(s)	inside rSNPs	diseases
7	nsv613759	chr9:21455814-21492506	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21454800-21474400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:21454800-21481600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:21455200-21464000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:21455200-21481000	Weak transcription	NHDF-Ad	bronchial
5	chr9:21455400-21462600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:21455800-21481000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:21456000-21462800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:21456000-21463200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:21456000-21465000	Weak transcription	NHEK	skin
10	chr9:21456000-21465400	Weak transcription	HMEC	breast
11	chr9:21456000-21476600	Weak transcription	NHLF	lung
12	chr9:21456400-21462400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:21457000-21462000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:21457200-21462600	Weak transcription	Osteobl	bone
15	chr9:21457200-21462800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:21460400-21461800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:21461400-21466200	Strong transcription	NH-A	brain

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