Variant report

Variant	rs18
Chromosome Location	chr7:11597475-11597476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11467068..11467774-chr7:11597036..11597764,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1034742	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs16	0.85[CHD][hapmap];0.89[MEX][hapmap]
rs19	0.89[CEU][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.81[ASN][1000 genomes]
rs21	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2189641	0.89[CEU][hapmap];0.80[ASN][1000 genomes]
rs22	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs23	0.85[CEU][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2354951	0.90[MEX][hapmap]
rs2354952	0.90[MEX][hapmap]
rs2354956	0.92[CEU][hapmap];0.80[ASN][1000 genomes]
rs2354957	0.89[CEU][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs24	0.88[CEU][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs25	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs29	0.85[CEU][hapmap]
rs4263647	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4263648	0.89[CEU][hapmap];0.81[ASN][1000 genomes]
rs59859955	0.91[ASN][1000 genomes]
rs6460826	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6460827	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs83	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv464366	chr7:11522525-11602899	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv606200	chr7:11522525-11602899	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv967453	chr7:11593345-11604917	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs18	PHF14	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11577400-11615200	Weak transcription	Placenta	Placenta
2	chr7:11582800-11598600	Weak transcription	Fetal Lung	lung
3	chr7:11596800-11597800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:11597000-11597800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:11597200-11597600	Enhancers	Liver	Liver
6	chr7:11597200-11597800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:11597200-11597800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:11597200-11598800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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