Variant report

Variant	rs7867300
Chromosome Location	chr9:95183107-95183108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95179674..95182574-chr9:95182721..95184992,2	MCF-7	breast:
2	chr9:95182280..95184197-chr9:95185829..95189194,3	K562	blood:
3	chr9:95176367..95178140-chr9:95181429..95184023,2	K562	blood:
4	chr9:95178951..95181323-chr9:95182899..95185671,2	K562	blood:

Variant related genes	Relation type
ENSG00000127083	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10761149	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs10761156	1.00[CEU][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs1152757	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs1152759	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1175788	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs1923599	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs2025389	1.00[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs2031262	1.00[CEU][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs2147060	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2181712	0.84[EUR][1000 genomes]
rs230222	1.00[CEU][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs2398751	0.88[EUR][1000 genomes]
rs3174352	1.00[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs331377	0.89[ASW][hapmap];0.93[CEU][hapmap];0.83[CHD][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs331379	0.89[ASW][hapmap];0.93[CEU][hapmap];0.83[CHD][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs331380	1.00[CEU][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs331381	0.89[ASW][hapmap];0.93[CEU][hapmap];0.83[CHD][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3736835	0.89[CEU][hapmap];0.80[AFR][1000 genomes]
rs3996311	0.96[CEU][hapmap]
rs471478	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs4743869	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs544396	0.85[AFR][1000 genomes]
rs7040860	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7048808	0.85[AFR][1000 genomes]
rs710163	1.00[ASW][hapmap];0.89[CEU][hapmap];0.83[CHD][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7467899	0.84[EUR][1000 genomes]
rs9299402	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9409664	0.96[CEU][hapmap];0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1049599	chr9:95170139-95265558	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7867300	FANCC	cis	cerebellum	SCAN
rs7867300	SPTLC1	cis	parietal	SCAN
rs7867300	CENPP	cis	parietal	SCAN
rs7867300	ZNF484	cis	cerebellum	SCAN
rs7867300	ZNF484	cis	parietal	SCAN
rs7867300	CENPP	cis	cerebellum	SCAN
rs7867300	ECM2	cis	cerebellum	SCAN
rs7867300	FBP1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95169400-95183800	Weak transcription	Aorta	Aorta
2	chr9:95173200-95184600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:95173200-95188400	Weak transcription	Fetal Heart	heart
4	chr9:95173800-95183400	Weak transcription	Fetal Stomach	stomach
5	chr9:95173800-95183400	Weak transcription	Ovary	ovary
6	chr9:95183000-95183600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:95183000-95183800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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