Variant report

Variant	rs4497057
Chromosome Location	chr9:18834036-18834037
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	chr9:18826203..18828034-chr9:18832223..18834749,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10811046	0.87[ASN][1000 genomes]
rs11795248	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11999522	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16937127	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2082574	0.82[ASN][1000 genomes]
rs4313669	0.94[ASN][1000 genomes]
rs55921006	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56160805	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56325857	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58686714	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59852857	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62549130	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62549134	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62549135	0.98[ASN][1000 genomes]
rs62549136	0.88[ASN][1000 genomes]
rs7852764	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7871789	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9695755	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9696796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9696918	0.99[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	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892698	chr9:18830444-18905289	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18818000-18845200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:18823000-18834400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:18825400-18845200	Weak transcription	HSMMtube	muscle
4	chr9:18825400-18857200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:18825600-18857400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:18826800-18834600	Weak transcription	Fetal Heart	heart
7	chr9:18827200-18861600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:18830200-18845400	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:18830400-18835600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:18830800-18845200	Weak transcription	Aorta	Aorta
11	chr9:18830800-18857400	Weak transcription	NHLF	lung
12	chr9:18832400-18837600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:18832400-18837800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:18832600-18837800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:18833000-18834600	Weak transcription	HSMM	muscle
16	chr9:18833000-18847000	Weak transcription	NH-A	brain
17	chr9:18833200-18845200	Weak transcription	Fetal Stomach	stomach
18	chr9:18833600-18845200	Weak transcription	Osteobl	bone
19	chr9:18833600-18848400	Weak transcription	NHDF-Ad	bronchial

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