Variant report

Variant	rs2025133
Chromosome Location	chr14:70058292-70058293
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	chr14:70056473..70059053-chr14:70067512..70070320,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10134217	0.81[EUR][1000 genomes]
rs10145804	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17764280	0.86[CEU][hapmap];0.84[CHB][hapmap]
rs2025132	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2332094	0.92[CHB][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs4899300	0.81[ASN][1000 genomes]
rs4899301	0.93[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4899303	0.87[EUR][1000 genomes]
rs4899304	0.93[CEU][hapmap];0.81[CHB][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs4899305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902730	0.85[ASN][1000 genomes]
rs4902733	0.82[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs4902734	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902738	0.93[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902739	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573892	0.87[EUR][1000 genomes]
rs6573893	0.93[CEU][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573894	0.93[CEU][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7140978	0.87[CEU][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7142221	0.82[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs7143193	0.84[ASN][1000 genomes]
rs7147881	0.87[CEU][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7494244	0.93[CEU][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8006991	0.92[CHB][hapmap];0.80[CHD][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs927387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9323528	0.83[ASN][1000 genomes]
rs9788506	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70041600-70060400	Weak transcription	Esophagus	oesophagus
2	chr14:70043800-70067200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70054200-70059600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:70054400-70059200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:70054400-70059200	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:70054400-70059800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:70057800-70058400	Enhancers	K562	blood
8	chr14:70058000-70058400	Enhancers	Fetal Brain Female	brain
9	chr14:70058000-70058600	Enhancers	Fetal Brain Male	brain
10	chr14:70058000-70058800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:70058000-70060200	Enhancers	Fetal Stomach	stomach
12	chr14:70058200-70059400	Weak transcription	Fetal Lung	lung
13	chr14:70058200-70060200	Enhancers	Cortex derived primary cultured neurospheres	brain

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