Variant report

Variant	rs9993168
Chromosome Location	chr4:125807868-125807869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:125806088..125809015-chr4:125822425..125824576,2	MCF-7	breast:
2	chr4:125782896..125785311-chr4:125806709..125809197,2	MCF-7	breast:
3	chr4:125632895..125634759-chr4:125807417..125811100,3	MCF-7	breast:
4	chr4:125633614..125636587-chr4:125806033..125809617,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151458	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10004729	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10004734	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10024371	0.96[ASN][1000 genomes]
rs10030199	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12650300	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1395325	0.82[ASN][1000 genomes]
rs1395327	0.82[ASN][1000 genomes]
rs16997819	0.82[ASN][1000 genomes]
rs1995628	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28733838	0.83[AMR][1000 genomes]
rs62323305	0.81[AMR][1000 genomes]
rs6826258	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6829998	0.85[CHB][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap]
rs6843995	0.82[ASN][1000 genomes]
rs6857392	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs7656360	0.92[ASN][1000 genomes]
rs7677690	0.81[ASN][1000 genomes]
rs7677713	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7680118	0.80[ASN][1000 genomes]
rs951530	0.83[MEX][hapmap]
rs9654205	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9990572	0.91[ASN][1000 genomes]

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	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv879884	chr4:125791252-125841892	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv879885	chr4:125791252-125852874	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879886	chr4:125791252-125856465	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3377839	chr4:125806152-125809897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv470069	chr4:125807868-125850998	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9993168	LOC100289258	cis	cerebellar cortex	BrainEAC

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125798200-125820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125807800-125814000	Weak transcription	Gastric	stomach

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