Variant report

Variant	rs7023075
Chromosome Location	chr9:94882079-94882080
allele	A/G
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	CEBPB	chr9:94881950-94882139	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:94881159..94883688-chr9:95052555..95054095,2	K562	blood:
2	chr9:94795340..94797620-chr9:94880079..94882545,2	K562	blood:
3	chr9:94880399..94883317-chr9:94886694..94889475,2	MCF-7	breast:
4	chr9:94879792..94883612-chr9:94883930..94887118,4	K562	blood:

Variant related genes	Relation type
SPTLC1	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10118072	0.84[ASN][1000 genomes]
rs10512220	1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs10739925	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs10739926	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10761143	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1105085	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11794148	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12340044	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1892268	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.84[ASN][1000 genomes]
rs1964170	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2297568	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.85[ASN][1000 genomes]
rs2895201	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3847308	1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs3858095	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs6479389	0.87[MEX][hapmap]
rs6479400	1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs6479402	0.84[ASN][1000 genomes]
rs7020136	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7024547	0.87[CHD][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs7037848	0.81[ASN][1000 genomes]
rs7041193	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.84[ASN][1000 genomes]
rs7042102	1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs7046430	0.80[ASN][1000 genomes]
rs7048339	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7048699	0.87[MEX][hapmap]
rs7848874	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7859689	0.83[ASN][1000 genomes]
rs7867072	0.87[MEX][hapmap]
rs7869504	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7871444	0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs9774945	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	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
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers 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 miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7023075	CDK20	cis	parietal	SCAN
rs7023075	ZNF484	cis	cerebellum	SCAN
rs7023075	OMD	cis	cerebellum	SCAN
rs7023075	ZNF484	cis	parietal	SCAN
rs7023075	SPTLC1	cis	parietal	SCAN
rs7023075	FANCC	cis	cerebellum	SCAN
rs7023075	ANKRD19	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94878200-94885200	Weak transcription	Gastric	stomach
2	chr9:94878200-94896400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:94878400-94883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:94880000-94883000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr9:94880400-94883200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr9:94881000-94883600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr9:94881600-94882600	Bivalent/Poised TSS	Primary B cells from cord blood	blood

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