Variant report

Variant	rs1952789
Chromosome Location	chr14:38372368-38372369
allele	C/T
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	STAT3	chr14:38372274-38372388	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
LINC00517	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10145136	0.83[CHB][hapmap]
rs11621735	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs11622986	0.81[CEU][hapmap]
rs1170022	0.91[CHB][hapmap]
rs1170023	0.82[CHB][hapmap]
rs1170025	0.87[CHB][hapmap]
rs1170028	0.82[CHB][hapmap]
rs1170030	0.83[CEU][hapmap]
rs11851837	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs12147106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12432452	0.82[CEU][hapmap];0.91[CHB][hapmap]
rs12435640	0.83[CEU][hapmap]
rs12590816	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs12883466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17107343	0.83[CEU][hapmap]
rs17179919	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs17554993	0.86[CHB][hapmap]
rs1952787	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs1952788	0.83[CEU][hapmap]
rs1952790	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1958692	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2150322	0.82[CEU][hapmap]
rs2150323	0.83[CHB][hapmap]
rs2183531	0.82[CEU][hapmap]
rs2415421	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2415422	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3809444	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs4597229	0.83[CHB][hapmap]
rs4901421	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs4901422	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs4901423	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs6571829	0.83[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs6571830	0.81[CEU][hapmap]
rs71407745	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71407747	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154853	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7155891	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs8005651	0.83[CHB][hapmap]
rs8005895	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs8013747	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs9322983	0.81[CHB][hapmap]
rs9788473	0.83[CEU][hapmap]
rs9788476	0.83[CEU][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	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv1051120	chr14:38294270-38436127	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv542046	chr14:38294270-38436127	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv564387	chr14:38357864-38563111	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3354861	chr14:38359630-38392369	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv994902	chr14:38368430-38374964	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr14:38365000-38372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:38371400-38372600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:38371400-38373000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:38371400-38373000	Enhancers	Adipose Nuclei	Adipose
5	chr14:38371600-38372600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:38371600-38372600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:38371600-38372600	Weak transcription	Hela-S3	cervix
8	chr14:38371600-38372800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:38371600-38372800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:38371600-38373000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:38371800-38372800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:38372000-38372600	Enhancers	HepG2	liver
13	chr14:38372200-38372600	Enhancers	NHDF-Ad	bronchial
14	chr14:38372200-38372800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:38372200-38373000	Enhancers	NHLF	lung

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