Variant report

Variant	rs2149980
Chromosome Location	chr9:6103793-6103794
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10114267	0.82[ASN][1000 genomes]
rs10815349	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10815350	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10975425	0.88[ASN][1000 genomes]
rs10975426	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10975436	1.00[ASN][1000 genomes]
rs10975437	1.00[ASN][1000 genomes]
rs10975441	0.98[ASN][1000 genomes]
rs10975446	0.94[ASN][1000 genomes]
rs10975451	0.91[ASN][1000 genomes]
rs10975454	0.88[ASN][1000 genomes]
rs11526367	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11793017	0.88[ASN][1000 genomes]
rs1411341	0.98[ASN][1000 genomes]
rs1591045	0.82[ASN][1000 genomes]
rs2069264	0.91[ASN][1000 genomes]
rs2104758	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2183352	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2381385	0.81[ASN][1000 genomes]
rs340897	0.83[ASN][1000 genomes]
rs381486	0.82[ASN][1000 genomes]
rs391813	0.83[ASN][1000 genomes]
rs393410	0.83[ASN][1000 genomes]
rs396183	0.83[ASN][1000 genomes]
rs397542	0.82[ASN][1000 genomes]
rs405594	0.83[ASN][1000 genomes]
rs414320	0.83[ASN][1000 genomes]
rs418014	0.82[ASN][1000 genomes]
rs434521	0.82[ASN][1000 genomes]
rs439190	0.83[ASN][1000 genomes]
rs440366	0.83[ASN][1000 genomes]
rs447778	0.82[ASN][1000 genomes]
rs4740837	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4740839	0.97[ASN][1000 genomes]
rs55817693	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57993622	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6477037	0.98[ASN][1000 genomes]
rs6477040	0.91[ASN][1000 genomes]
rs6477041	0.82[ASN][1000 genomes]
rs67217130	0.94[ASN][1000 genomes]
rs67478282	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68075537	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694965	0.82[ASN][1000 genomes]
rs7024136	1.00[ASN][1000 genomes]
rs7024235	1.00[ASN][1000 genomes]
rs7024340	0.98[ASN][1000 genomes]
rs7024677	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7040888	1.00[ASN][1000 genomes]
rs7043663	1.00[ASN][1000 genomes]
rs7048296	0.95[ASN][1000 genomes]
rs7856231	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7869061	1.00[ASN][1000 genomes]
rs7869064	1.00[ASN][1000 genomes]
rs7869888	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv613205	chr9:6032924-6332901	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv916394	chr9:6055497-6322471	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2761482	chr9:6084602-6134787	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv892157	chr9:6093790-6322415	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv933124	chr9:6099101-6644738	Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv831496	chr9:6101763-6285088	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr9:6098800-6105200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:6099200-6106600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:6101600-6104800	Enhancers	NHEK	skin
4	chr9:6101600-6105400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:6101600-6107200	Enhancers	HMEC	breast
6	chr9:6101800-6105400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:6102000-6106400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:6103000-6106800	Weak transcription	HUVEC	blood vessel
9	chr9:6103000-6107000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:6103000-6108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:6103400-6104000	Enhancers	Esophagus	oesophagus
12	chr9:6103400-6106400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:6103400-6106800	Weak transcription	NHDF-Ad	bronchial
14	chr9:6103600-6103800	Flanking Active TSS	Hela-S3	cervix

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