Variant report

Variant	rs17672204
Chromosome Location	chr5:74946518-74946519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74944742..74946556-chr5:74948688..74950561,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1018119	0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs10515215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872589	0.87[ASN][1000 genomes]
rs16872635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs16872639	0.94[ASN][1000 genomes]
rs16872665	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872670	1.00[MEX][hapmap]
rs16872674	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16872720	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872723	0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs16872724	0.89[JPT][hapmap]
rs16872726	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs16872766	0.85[CHB][hapmap]
rs17672150	0.98[ASN][1000 genomes]
rs1909720	0.87[ASN][1000 genomes]
rs1988728	0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs2287709	0.89[JPT][hapmap]
rs2303648	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs55705647	0.87[ASN][1000 genomes]
rs5744566	0.92[CHD][hapmap]
rs5744567	0.92[CHD][hapmap]
rs5744578	0.87[ASN][1000 genomes]
rs5744587	0.87[ASN][1000 genomes]
rs5744591	0.87[ASN][1000 genomes]
rs5744594	0.87[ASN][1000 genomes]
rs5744612	0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs5744661	0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs5744681	0.87[ASN][1000 genomes]
rs58789089	0.87[ASN][1000 genomes]
rs59115766	0.87[EUR][1000 genomes]
rs60005967	0.87[EUR][1000 genomes]
rs60389922	0.87[EUR][1000 genomes]
rs60854109	0.87[ASN][1000 genomes]
rs61164763	0.87[ASN][1000 genomes]
rs73764928	0.87[ASN][1000 genomes]
rs73764930	0.87[ASN][1000 genomes]
rs73764931	0.94[ASN][1000 genomes]
rs73764932	0.94[ASN][1000 genomes]
rs767677	0.87[ASN][1000 genomes]
rs7714554	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17672204	RBFA	trans	brain	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74921800-74964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74944800-74947400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:74944800-74952200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:74945000-74946800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:74945000-74947000	Weak transcription	Fetal Intestine Small	intestine
6	chr5:74945000-74947200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:74945000-74962800	Weak transcription	Fetal Intestine Large	intestine
8	chr5:74945600-74946600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:74945800-74950800	Weak transcription	Right Atrium	heart
10	chr5:74946200-74947200	Weak transcription	Fetal Heart	heart

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