Variant report

Variant	rs1550560
Chromosome Location	chr3:19518269-19518270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:19489514..19491858-chr3:19516874..19519279,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13092831	0.83[GIH][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs1348229	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1348230	0.81[CHD][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap]
rs1372550	0.82[TSI][hapmap]
rs1470213	0.84[TSI][hapmap]
rs1867001	0.83[GIH][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs2197126	0.84[ASW][hapmap]
rs4142701	1.00[YRI][hapmap]
rs4858318	0.82[GIH][hapmap];0.88[LWK][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs6549913	0.81[AFR][1000 genomes]
rs6549948	0.85[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap]
rs6777740	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6779105	0.84[TSI][hapmap];1.00[YRI][hapmap]
rs6790388	0.83[EUR][1000 genomes]
rs6809806	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7611730	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs7630677	0.84[TSI][hapmap];1.00[YRI][hapmap]
rs9310596	0.84[ASW][hapmap];0.88[CEU][hapmap];0.83[GIH][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs9809140	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9860121	0.85[EUR][1000 genomes]
rs9871028	0.89[GIH][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][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	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1004602	chr3:19031671-19930052	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking 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	10 gene(s)	inside rSNPs	diseases
3	nsv536511	chr3:19031671-19930052	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
4	nsv948636	chr3:19335802-19856585	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3386719	chr3:19454588-19895807	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv876595	chr3:19512074-19726308	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19513000-19532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:19514600-19530200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:19514800-19518600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:19515000-19518800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:19515000-19519200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:19516400-19521800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:19517000-19518800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:19517200-19518400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:19517200-19518800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:19517400-19518400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:19517400-19518600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:19518000-19522000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr3:19518000-19523200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:19518000-19531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:19518200-19535400	Weak transcription	Primary B cells from cord blood	blood

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