Variant report

Variant	rs17328
Chromosome Location	chr14:70275583-70275584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:70275481-70276508	HepG2	liver:	n/a	chr14:70275847-70275856
2	MBD4	chr14:70275519-70276488	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70233121..70235370-chr14:70275423..70277973,2	MCF-7	breast:
2	chr14:70193717..70196360-chr14:70274467..70276382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221060	TF binding region
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10130926	0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10136397	0.87[ASN][1000 genomes]
rs10136529	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10142027	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10142031	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10142686	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10143223	0.84[CEU][hapmap]
rs10146537	0.83[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10148404	0.87[ASN][1000 genomes]
rs10151895	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10459536	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11620808	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11622580	0.81[ASN][1000 genomes]
rs11622925	0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11623262	0.83[ASN][1000 genomes]
rs11624523	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11624532	0.84[CHD][hapmap]
rs11625731	0.81[ASN][1000 genomes]
rs11625932	0.82[ASN][1000 genomes]
rs11627012	0.89[ASN][1000 genomes]
rs11627089	0.87[ASN][1000 genomes]
rs11628423	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11628546	0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11628665	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11629054	0.84[CEU][hapmap];0.80[CHD][hapmap]
rs12431573	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13313365	0.87[ASN][1000 genomes]
rs13313366	0.87[ASN][1000 genomes]
rs13313388	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs14411	0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1953399	0.82[ASN][1000 genomes]
rs1953400	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2148503	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2148505	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2332167	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28404963	0.81[ASN][1000 genomes]
rs28437671	0.87[ASN][1000 genomes]
rs28437822	0.83[ASN][1000 genomes]
rs28480224	0.87[ASN][1000 genomes]
rs28490548	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2877595	0.81[ASN][1000 genomes]
rs2877598	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28785205	0.89[ASN][1000 genomes]
rs3104	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3784152	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3784153	1.00[CEU][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3809399	0.88[CHD][hapmap]
rs4646285	0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4646286	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4646297	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4899313	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs4902752	0.80[CHD][hapmap];0.81[ASN][1000 genomes]
rs4902753	0.81[ASN][1000 genomes]
rs4902755	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4902756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902757	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55724465	0.83[ASN][1000 genomes]
rs56177148	0.87[ASN][1000 genomes]
rs57492222	0.82[ASN][1000 genomes]
rs58582364	0.83[ASN][1000 genomes]
rs59066042	0.87[ASN][1000 genomes]
rs59172911	0.81[ASN][1000 genomes]
rs60442313	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61356864	0.93[ASN][1000 genomes]
rs6573905	0.81[ASN][1000 genomes]
rs6573906	0.81[ASN][1000 genomes]
rs6573907	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573908	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6573909	0.96[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7142868	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152290	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153496	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7153985	0.83[ASN][1000 genomes]
rs7154439	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7160953	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7161476	0.81[ASN][1000 genomes]
rs72725718	0.81[ASN][1000 genomes]
rs72725740	0.83[ASN][1000 genomes]
rs72725743	0.83[ASN][1000 genomes]
rs72725745	0.83[ASN][1000 genomes]
rs8005609	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8010836	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs8011311	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8013598	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8014236	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8021735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944036	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17328	MPP5	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70254800-70275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70273400-70275800	Enhancers	HepG2	liver
3	chr14:70273600-70275800	Weak transcription	Stomach Mucosa	stomach
4	chr14:70274000-70279200	Weak transcription	Hela-S3	cervix
5	chr14:70275400-70277800	Enhancers	Fetal Intestine Small	intestine
6	chr14:70275400-70278200	Enhancers	Fetal Intestine Large	intestine
7	chr14:70275400-70280000	Enhancers	Liver	Liver

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