Variant report

Variant	rs9309181
Chromosome Location	chr2:50563905-50563906
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10178331	0.84[CHD][hapmap]
rs10203511	0.80[JPT][hapmap]
rs11903097	0.91[MEX][hapmap]
rs12053271	0.83[MEX][hapmap]
rs1217436	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12466945	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12474009	0.87[MEX][hapmap]
rs13397180	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13407780	0.87[MEX][hapmap]
rs13422484	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1402121	0.87[MEX][hapmap]
rs1520445	0.87[MEX][hapmap]
rs1915166	0.83[ASN][1000 genomes]
rs1915167	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1915168	0.84[CHD][hapmap];0.82[MKK][hapmap]
rs2019684	0.84[CHD][hapmap]
rs28377408	0.85[AMR][1000 genomes]
rs4971664	0.81[CHD][hapmap]
rs6545163	0.82[ASW][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.89[MKK][hapmap];0.81[ASN][1000 genomes]
rs6545164	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6737125	0.91[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.90[MKK][hapmap];0.94[YRI][hapmap]
rs6760667	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7556697	0.86[CHD][hapmap]
rs7584172	0.81[CHD][hapmap];0.80[MEX][hapmap]

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	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1000087	chr2:50501395-50581229	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr2:50548400-50570600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:50560800-50569600	Weak transcription	Fetal Brain Female	brain
3	chr2:50561600-50564000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:50562000-50564000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:50562000-50564000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:50562600-50570800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:50562800-50565200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:50563000-50564200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:50563000-50564200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:50563400-50564000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:50563400-50571200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:50563600-50566000	Enhancers	Brain Germinal Matrix	brain
13	chr2:50563800-50564400	Enhancers	Fetal Brain Male	brain
14	chr2:50563800-50567400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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