Variant report

Variant	rs7012879
Chromosome Location	chr8:10706960-10706961
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10695954..10697810-chr8:10705274..10708188,2	K562	blood:
2	chr8:10704113..10707157-chr8:10708528..10711302,3	K562	blood:

Variant related genes	Relation type
ENSG00000258724	Chromatin interaction
ENSG00000254093	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10046628	0.91[YRI][hapmap]
rs10089153	0.88[YRI][hapmap]
rs10096939	1.00[JPT][hapmap]
rs10503411	1.00[JPT][hapmap]
rs10503412	1.00[JPT][hapmap]
rs1055329	0.91[YRI][hapmap]
rs1078543	1.00[JPT][hapmap]
rs11250083	0.92[YRI][hapmap]
rs1139843	1.00[CHD][hapmap]
rs11774457	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11776965	0.89[ASN][1000 genomes]
rs11779094	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11779336	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11782490	0.84[ASN][1000 genomes]
rs11783803	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13254592	0.85[AFR][1000 genomes]
rs13265197	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13269447	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1469556	0.92[YRI][hapmap]
rs17152366	1.00[JPT][hapmap]
rs17152410	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17152412	1.00[JPT][hapmap]
rs17152542	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17152623	0.84[ASN][1000 genomes]
rs17774023	1.00[JPT][hapmap]
rs2278335	0.92[YRI][hapmap]
rs2409664	1.00[JPT][hapmap]
rs28544530	0.84[ASN][1000 genomes]
rs28675255	0.84[ASN][1000 genomes]
rs28706358	0.95[ASN][1000 genomes]
rs2898245	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3808604	0.84[ASN][1000 genomes]
rs4240668	1.00[JPT][hapmap]
rs4840515	1.00[JPT][hapmap]
rs4840518	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4841447	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4841448	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4841449	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4841453	0.84[ASN][1000 genomes]
rs4841455	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6983956	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6984094	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7003456	1.00[CHD][hapmap]
rs7013032	0.92[YRI][hapmap]
rs7350075	1.00[JPT][hapmap]
rs7350124	1.00[JPT][hapmap]
rs73531553	0.84[ASN][1000 genomes]
rs73531554	0.84[ASN][1000 genomes]
rs73533521	0.84[ASN][1000 genomes]
rs73533523	0.84[ASN][1000 genomes]
rs7815184	1.00[CHD][hapmap]
rs7822666	1.00[CHD][hapmap]
rs7833128	0.91[YRI][hapmap]
rs7836178	1.00[JPT][hapmap]
rs891560	1.00[CHD][hapmap];1.00[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	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7012879	PRSS55	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10698000-10707800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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