Variant report

Variant	rs4521965
Chromosome Location	chr1:227578908-227578909
allele	C/G
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	TAL1	chr1:227578890-227579728	K562	blood:	n/a	chr1:227579648-227579663 chr1:227579648-227579663
2	TEAD4	chr1:227578851-227579313	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:227571064..227573731-chr1:227576729..227579706,2	MCF-7	breast:
2	chr1:227573402..227580584-chr1:227581981..227587587,10	K562	blood:
3	chr1:227508074..227511114-chr1:227576547..227579179,3	K562	blood:
4	chr1:227578119..227581046-chr11:66042464..66044320,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234277	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10082258	0.89[EUR][1000 genomes]
rs10916131	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2953652	0.84[YRI][hapmap]
rs3000775	1.00[CEU][hapmap]
rs3000778	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3000779	0.90[EUR][1000 genomes]
rs3000781	0.89[EUR][1000 genomes]
rs3000782	0.90[EUR][1000 genomes]
rs3000783	0.90[EUR][1000 genomes]
rs3000784	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3000785	0.89[EUR][1000 genomes]
rs3000786	0.89[EUR][1000 genomes]
rs3000787	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3000788	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs3000789	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs3000792	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3000794	0.80[EUR][1000 genomes]
rs3000796	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3000797	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3000798	0.84[EUR][1000 genomes]
rs3000804	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3000806	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs3000809	0.81[EUR][1000 genomes]
rs3000810	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3000811	0.91[EUR][1000 genomes]
rs3000816	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3014273	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3014275	0.89[EUR][1000 genomes]
rs3014278	0.91[EUR][1000 genomes]
rs3014279	1.00[CEU][hapmap]
rs3014280	1.00[CEU][hapmap]
rs3014287	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3014288	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs3014290	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3014291	0.89[EUR][1000 genomes]
rs3014292	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3014293	0.84[EUR][1000 genomes]
rs3014295	0.81[EUR][1000 genomes]
rs3014296	0.81[EUR][1000 genomes]
rs3014297	0.81[EUR][1000 genomes]
rs3014298	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs3014299	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3014300	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3014301	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs3122560	0.86[EUR][1000 genomes]
rs3122561	0.89[EUR][1000 genomes]
rs3125124	0.91[EUR][1000 genomes]
rs4468130	0.84[EUR][1000 genomes]
rs4570389	0.82[EUR][1000 genomes]
rs6697269	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6699969	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9426519	0.81[EUR][1000 genomes]
rs9426521	1.00[CEU][hapmap];0.81[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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227576800-227584600	Weak transcription	A549	lung
2	chr1:227577000-227579000	Weak transcription	Stomach Mucosa	stomach
3	chr1:227577000-227579600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:227577000-227583200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:227577800-227583200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:227578400-227579800	Enhancers	K562	blood
7	chr1:227578400-227583200	Weak transcription	HSMMtube	muscle

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