Variant report

Variant	rs7153496
Chromosome Location	chr14:70217763-70217764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70214285..70215850-chr14:70216980..70219058,2	K562	blood:
2	chr14:70210188..70218336-chr14:70231974..70235461,17	MCF-7	breast:
3	chr14:70213284..70215465-chr14:70216209..70218771,2	MCF-7	breast:
4	chr14:70106414..70108074-chr14:70216231..70218583,2	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10130926	0.80[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs10136529	0.88[EUR][1000 genomes]
rs10142027	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10142031	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10142686	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10143223	0.84[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10151895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10459536	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11621916	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs11622580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11622925	0.90[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs11624523	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624532	0.90[CHB][hapmap];0.84[CHD][hapmap];0.85[ASN][1000 genomes]
rs11625731	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11625932	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11628665	0.90[JPT][hapmap]
rs11629054	0.84[CEU][hapmap];0.80[CHB][hapmap];0.96[CHD][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12431573	0.96[CEU][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs13313388	0.91[EUR][1000 genomes]
rs17328	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]
rs1953399	0.93[ASN][1000 genomes]
rs1953400	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2148503	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2148505	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2332167	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28404963	0.94[ASN][1000 genomes]
rs28437822	0.91[ASN][1000 genomes]
rs28490548	0.89[EUR][1000 genomes]
rs2877595	0.94[ASN][1000 genomes]
rs2877598	0.92[EUR][1000 genomes]
rs28847646	0.90[ASN][1000 genomes]
rs3104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784152	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3784153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809399	0.90[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs4646285	0.90[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs4646286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4646297	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899311	0.93[ASN][1000 genomes]
rs4899313	0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs4902752	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4902753	0.94[ASN][1000 genomes]
rs4902755	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902756	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902757	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55724465	0.91[ASN][1000 genomes]
rs55987626	0.89[ASN][1000 genomes]
rs56074637	0.86[ASN][1000 genomes]
rs56140822	0.83[ASN][1000 genomes]
rs57492222	0.93[ASN][1000 genomes]
rs58582364	0.91[ASN][1000 genomes]
rs59172911	0.94[ASN][1000 genomes]
rs60442313	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61356864	0.82[ASN][1000 genomes]
rs6573905	0.94[ASN][1000 genomes]
rs6573906	0.94[ASN][1000 genomes]
rs6573907	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573908	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573909	0.96[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7142868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7152290	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7153985	0.91[ASN][1000 genomes]
rs7154439	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7160953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7161476	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs72725718	0.94[ASN][1000 genomes]
rs72725724	0.85[ASN][1000 genomes]
rs72725740	0.91[ASN][1000 genomes]
rs72725743	0.91[ASN][1000 genomes]
rs72725745	0.91[ASN][1000 genomes]
rs8005609	0.90[EUR][1000 genomes]
rs8010836	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8011311	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8013598	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8014236	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8021735	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9944036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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
rs7153496	MPP5	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70213200-70218000	Enhancers	Fetal Intestine Small	intestine
2	chr14:70215000-70218000	Enhancers	Fetal Intestine Large	intestine
3	chr14:70216000-70218000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr14:70217400-70217800	Enhancers	HepG2	liver
5	chr14:70217400-70219000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:70217400-70222000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:70217400-70222000	Weak transcription	Stomach Mucosa	stomach
8	chr14:70217600-70217800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr14:70217600-70221200	Weak transcription	K562	blood

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