Variant report

Variant	rs529171
Chromosome Location	chr1:114615109-114615110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114563454..114565065-chr1:114613996..114616679,2	MCF-7	breast:
2	chr1:114614196..114617663-chr1:114624428..114628635,5	MCF-7	breast:
3	chr1:114613845..114616518-chr1:114618546..114620521,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10776776	0.83[ASN][1000 genomes]
rs10776777	0.83[ASN][1000 genomes]
rs10858028	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11102721	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11102722	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11102727	0.85[EUR][1000 genomes]
rs1330700	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394075	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1587773	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1604781	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1910486	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2774291	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2938317	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2938321	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2938324	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2938325	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2938334	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2938335	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2938336	0.83[ASN][1000 genomes]
rs2938337	0.83[ASN][1000 genomes]
rs2938338	0.83[ASN][1000 genomes]
rs2938339	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2938340	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2938341	0.83[ASN][1000 genomes]
rs2938342	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2938344	0.83[ASN][1000 genomes]
rs2938345	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2938349	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2938350	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2938351	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2938353	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3006991	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3006992	0.83[ASN][1000 genomes]
rs3006994	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3006995	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3006997	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3007004	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3007005	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3007007	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3007010	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3007012	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3007013	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240537	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs514647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548040	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537808	0.85[EUR][1000 genomes]
rs9429734	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv463284	chr1:114585590-114623867	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv547568	chr1:114585590-114623867	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv547569	chr1:114587766-114625425	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114614200-114616000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:114614400-114615800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:114614400-114616000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr1:114614400-114616400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr1:114614600-114615600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:114614600-114616600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr1:114614800-114615200	Active TSS	Right Atrium	heart
8	chr1:114615000-114615800	ZNF genes & repeats	Fetal Muscle Leg	muscle
9	chr1:114615000-114616200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr1:114615000-114616200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:114615000-114618800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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