Variant report

Variant	rs7447402
Chromosome Location	chr5:2008094-2008095
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1996819..1999293-chr5:2006746..2009564,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10037957	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10038712	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10040620	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10076791	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11133919	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12513689	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12516513	0.80[EUR][1000 genomes]
rs13153232	0.88[EUR][1000 genomes]
rs13189295	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13359574	0.83[EUR][1000 genomes]
rs16902267	0.88[EUR][1000 genomes]
rs17518774	0.87[EUR][1000 genomes]
rs2087141	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28664256	0.88[ASN][1000 genomes]
rs33941693	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34262770	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35479209	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4277952	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4493711	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4583926	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4975778	0.86[CEU][hapmap]
rs4975781	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4975785	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4975787	0.89[EUR][1000 genomes]
rs56350722	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62337140	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7448903	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs746364	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs746365	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427705	chr5:1950467-2115059	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv4681	chr5:1967628-2010091	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2006000-2008200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:2007000-2008600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:2007400-2011800	Enhancers	Fetal Heart	heart
4	chr5:2007600-2008200	Enhancers	Esophagus	oesophagus
5	chr5:2007600-2008400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:2007600-2008600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr5:2007800-2008200	Bivalent Enhancer	Fetal Stomach	stomach
8	chr5:2007800-2008200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr5:2007800-2008600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:2007800-2008600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:2007800-2008600	Flanking Active TSS	Right Ventricle	heart
12	chr5:2007800-2009400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:2008000-2008400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:2008000-2008400	Active TSS	Right Atrium	heart
15	chr5:2008000-2008600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr5:2008000-2008600	Enhancers	Lung	lung
17	chr5:2008000-2008600	Flanking Active TSS	HMEC	breast
18	chr5:2008000-2008800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr5:2008000-2008800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:2008000-2008800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr5:2008000-2008800	Flanking Active TSS	NHEK	skin

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